| 306190 |
306190 |
23.1 |
Gonadotropin deficiency (2) (?) |
?Gonadotropin deficiency (2); ?Cryptorchidism (2) |
Gonadotropin deficiency |
distal to AHC |
| 306190 |
306190 |
23.1 |
Cryptorchidism (2) (?) |
?Gonadotropin deficiency (2); ?Cryptorchidism (2) |
Gonadotropin deficiency |
distal to AHC |
| 309583 |
309583 |
23.101 |
Mental retardation- Snyder-Robinson type (2) |
Mental retardation Snyder-Robinson type (2) |
Snyder-Robinson X-linked mental retardation syndrome |
|
| 309549 |
309549 |
23.102 |
Mental retardation- X-linked 9 (2) |
Mental retardation X-linked 9 (2) |
Mental retardation X-linked-9 |
|
| 304020 |
304020 |
23.104 |
Cone dystrophy- progressive X-linked- 1 (2) |
Cone dystrophy progressive X-linked 1 (2) |
Cone dystrophy-1 X-linked |
|
| 310600 |
310600 |
23.106 |
Exudative vitreoretinopathy- X-linked- 305390 (3) |
Norrie disease (3); Exudative vitreoretinopathy X-linked 305390 |
Norrin |
|
| 310600 |
310600 |
23.106 |
Norrie disease (3) |
Norrie disease (3); Exudative vitreoretinopathy X-linked 305390 |
Norrin |
|
| 300600 |
300600 |
23.108 |
Ocular albinism- Forsius-Eriksson type (2) |
Ocular albinism Forsius-Eriksson type (2) |
Aland island eye disease (ocular albinism Forsius-Eriksson type) |
pericentric between DXS7 and DXS72 |
| 312060 |
312060 |
23.109 |
Properdin deficiency- X-linked (3) |
Properdin deficiency X-linked (3) |
Properdin P factor complement |
|
| 311050 |
311050 |
23.11 |
Optic atrophy- X-linked (2) |
Optic atrophy X-linked (2) |
Optic atrophy X-linked |
|
| 309500 |
309500 |
23.113 |
Renpenning syndrome-1 (2) |
Renpenning syndrome-1 (2) |
Renpenning syndrome-1 |
|
| 310500 |
310500 |
23.115 |
Night blindness- congenital stationary- type 1 (2) |
Night blindness congenital stationary type 1 (2) |
Congenital stationary night blindness-1 (CSNB complete) |
?order: DMD-17cM-MAOA-7.5cM-CSNB-7.5cM-TIMP-cen |
| 312600 |
312600 |
23.116 |
Retinitis pigmentosa-2 (2) |
Retinitis pigmentosa-2 (2) |
Retinitis pigmentosa-2 X-linked recessive |
|
| 301830 |
301830 |
23.123 |
Arthrogryposis- X-linked (spinal muscular atrophy- infantile- X-linked) (2) |
Arthrogryposis X-linked (spinal muscular atrophy infantile |
Arthrogryposis multiplex congenita X-linked (spinal muscular atrophy |
|
| 300062 |
300062 |
23.129 |
Mental retardation- X-linked 14 (2) |
Mental retardation X-linked 14 (2) |
Mental retardation X-linked-14 |
|
| 308100 |
308100 |
23.13 |
Placental steroid sulfatase deficiency (3) |
Ichthyosis X-linked (3); Placental steroid sulfatase deficiency (3) |
Steroid sulfatase microsomal (arylsulfatase C isozyme S) |
nonlyonizing |
| 308100 |
308100 |
23.13 |
Ichthyosis- X-linked (3) |
Ichthyosis X-linked (3); Placental steroid sulfatase deficiency (3) |
Steroid sulfatase microsomal (arylsulfatase C isozyme S) |
nonlyonizing |
| 300110 |
300110 |
23.131 |
Night blindness- congenital stationary- X-linked incomplete- 300071 (3) |
Night blindness congenital stationary X-linked type 2 300071 (3) |
Calcium channel voltage-dependent alpha-1F subunit |
|
| 309850 |
309850 |
23.133 |
Brunner syndrome (3) |
Brunner syndrome (3) |
Monoamine oxidase A |
NDP MAOA MAOB closely linked |
| 301000 |
301000 |
23.143 |
Thrombocytopenia- X-linked- 313900 (3) |
Wiskott-Aldrich syndrome (3); Thrombocytopenia X-linked 313900 (3) |
Wiskott-Aldrich syndrome |
t(18;X)(q11.2;p11.2); distal to TIMP |
| 301000 |
301000 |
23.143 |
Wiskott-Aldrich syndrome (3) |
Wiskott-Aldrich syndrome (3); Thrombocytopenia X-linked 313900 (3) |
Wiskott-Aldrich syndrome |
t(18;X)(q11.2;p11.2); distal to TIMP |
| 300008 |
300008 |
23.145 |
Proteinuria- low molecular weight- with hypercalciuric nephrocalcinosis (3) |
Dent disease 300009 (3); Nephrolithiasis type I 310468 (3); |
Chloride channel-5 |
|
| 300008 |
300008 |
23.145 |
Hypophosphatemia- type III (3) |
Dent disease 300009 (3); Nephrolithiasis type I 310468 (3); |
Chloride channel-5 |
|
| 300008 |
300008 |
23.145 |
Dent disease- 300009 (3) |
Dent disease 300009 (3); Nephrolithiasis type I 310468 (3); |
Chloride channel-5 |
|
| 300008 |
300008 |
23.145 |
Nephrolithiasis- type I- 310468 (3) |
Dent disease 300009 (3); Nephrolithiasis type I 310468 (3); |
Chloride channel-5 |
|
| 301300 |
301300 |
23.151 |
Anemia- sideroblastic/hypochromic (3) |
Anemia sideroblastic/hypochromic (3) |
Aminolevulinate delta- synthase-2 |
|
| 305400 |
305400 |
23.152 |
Aarskog-Scott syndrome (3) |
Aarskog-Scott syndrome (3) |
Faciogenital dysplasia (Aarskog-Scott syndrome) |
|
| 312390 |
312390 |
23.158 |
Renal cell carcinoma- papillary- 2 (2) |
Renal cell carcinoma papillary 2 (2) |
Renal cell carcinoma papillary |
t(X;1)(p11;q21) |
| 312820 |
312820 |
23.159 |
Sarcoma- synovial (3) |
Sarcoma synovial (3) |
Synovial sarcoma X breakpoint 1 |
?same as ELK1 |
| 309801 |
309801 |
23.16 |
Microphthalmia- dermal aplasia- and sclerocornea (2) |
Microphthalmia with linear skin defects (2); Microphthalmia dermal |
Microphthalmia with linear skin defects |
|
| 309801 |
309801 |
23.16 |
Microphthalmia with linear skin defects (2) |
Microphthalmia with linear skin defects (2); Microphthalmia dermal |
Microphthalmia with linear skin defects |
|
| 300136 |
300136 |
23.163 |
{Diabetes mellitus- insulin-dependent- X-linked- susceptibility to} (2) |
{Diabetes mellitus insulin-dependent X-linked} (2) |
Diabetes mellitus insulin-dependent X-linked susceptibility to |
only with DR3 |
| 309545 |
309545 |
23.164 |
Mental retardation- X-linked nonspecific- with aphasia (2) (?) |
?Mental retardation X-linked nonspecific with aphasia (2) |
Mental retardation X-linked nonspecific with aphasia |
|
| 300047 |
300047 |
23.166 |
Mental retardation- X-linked 20 (2) |
Mental retardation X-linked 20 (2) |
Mental retardation X-linked-20 |
|
| 309610 |
309610 |
23.167 |
Mental retardation- X-linked- syndromic-2- with dysmorphism and cerebral atrophy (2) |
Mental retardation X-linked syndromic-2 with dysmorphism and |
Prieto syndrome (mental retardation X-linked syndromic-2 with |
|
| 309470 |
309470 |
23.168 |
Mental retardation- X-linked- syndromic-3- with spastic diplegia (2) |
Mental retardation X-linked syndromic-3 with spastic diplegia |
Sutherland-Haan syndrome (mental retardation X-linked syndromic-3 |
linked to DXYS1 |
| 302200 |
302200 |
23.17 |
Cataract- congenital total (2) (?) |
?Cataract congenital total (2) |
Cataracts congenital total |
|
| 300021 |
300021 |
23.171 |
Spinal muscular atrophy- X-linked lethal infantile (2) |
Spinal muscular atrophy X-linked lethal infantile (2) |
Spinal muscular atrophy X-linked lethal infantile |
|
| 300082 |
300082 |
23.173 |
[Social cognition] (2) |
[Social cognition] (2) |
Cognitive function-1 social |
imprinted locus |
| 300125 |
300125 |
23.176 |
{Migraine- familial typical- susceptibility to- 1} (2) |
{Migraine familial typical susceptibility to 1} (2) |
Migraine familial typical susceptibility to |
|
| 313700 |
313700 |
23.178 |
Spinal and bulbar muscular atrophy of Kennedy- 313200 (3) |
Androgen insensitivity several forms (3); Spinal and bulbar muscular |
Androgen receptor (dihydrotestosterone receptor) |
|
| 313700 |
313700 |
23.178 |
Prostate cancer (3) |
Androgen insensitivity several forms (3); Spinal and bulbar muscular |
Androgen receptor (dihydrotestosterone receptor) |
|
| 313700 |
313700 |
23.178 |
Breast cancer- male- with Reifenstein syndrome (3) |
Androgen insensitivity several forms (3); Spinal and bulbar muscular |
Androgen receptor (dihydrotestosterone receptor) |
|
| 313700 |
313700 |
23.178 |
Perineal hypospadias (3) |
Androgen insensitivity several forms (3); Spinal and bulbar muscular |
Androgen receptor (dihydrotestosterone receptor) |
|
| 313700 |
313700 |
23.178 |
Androgen insensitivity- several forms (3) |
Androgen insensitivity several forms (3); Spinal and bulbar muscular |
Androgen receptor (dihydrotestosterone receptor) |
|
| 300127 |
300127 |
23.183 |
Mental retardation- X-linked- 60 (3) |
Mental retardation X-linked 60 (3) |
Oligophrenin-1 |
|
| 300011 |
300011 |
23.184 |
Menkes disease- 309400 (3) |
Menkes disease 309400 (3); Occipital horn syndrome 304150 (3); |
ATPase Cu++ transporting alpha polypeptide |
probably Xq13.2-q13.3 ~150kb prox. to PGK1 |
| 300011 |
300011 |
23.184 |
Occipital horn syndrome- 304150 (3) |
Menkes disease 309400 (3); Occipital horn syndrome 304150 (3); |
ATPase Cu++ transporting alpha polypeptide |
probably Xq13.2-q13.3 ~150kb prox. to PGK1 |
| 300011 |
300011 |
23.184 |
Cutis laxa- neonatal (3) |
Menkes disease 309400 (3); Occipital horn syndrome 304150 (3); |
ATPase Cu++ transporting alpha polypeptide |
probably Xq13.2-q13.3 ~150kb prox. to PGK1 |
| 305100 |
305100 |
23.185 |
Anhidrotic ectodermal dysplasia (2) |
Ectodermal dysplasia-1 anhidrotic (3) |
Ectodermal dysplasia-1 anhidrotic |
~10cM distal to DXS1 proximal to DXYS1 |
| 305450 |
305450 |
23.186 |
FG syndrome (2) |
FG syndrome (2) |
FG syndrome 1 |
?second locus on Xq |
| 300032 |
300032 |
23.187 |
Alpha-thalassemia/mental retardation syndrome- type 2- 301040 (3) |
Alpha-thalassemia/mental retardation syndrome 301040 (3); |
ATR-X gene (helicase 2; X-linked nuclear protein) |
|
| 300032 |
300032 |
23.187 |
Juberg-Marsidi syndrome- 309590 (3) |
Alpha-thalassemia/mental retardation syndrome 301040 (3); |
ATR-X gene (helicase 2; X-linked nuclear protein) |
|
| 308380 |
308380 |
23.188 |
Combined immunodeficiency- X-linked- moderate- 312863 (3) |
Severe combined immunodeficiency X-linked 300400 (3); Combined |
Interleukin-2 receptor gamma |
linked to DXS159 |
| 308380 |
308380 |
23.188 |
Severe combined immunodeficiency- X-linked- 300400 (3) |
Severe combined immunodeficiency X-linked 300400 (3); Combined |
Interleukin-2 receptor gamma |
linked to DXS159 |
| 311800 |
311800 |
23.192 |
Myoglobinuria/hemolysis due to PGK deficiency (3) |
Hemolytic anemia due to PGK deficiency (3); Myoglobinuria/hemolysis |
Phosphoglycerate kinase-1 |
?Xq13.3; pseudogenes PGK1P1 on Xq PGK1P2 on chr. 6 |
| 311800 |
311800 |
23.192 |
Hemolytic anemia due to PGK deficiency (3) |
Hemolytic anemia due to PGK deficiency (3); Myoglobinuria/hemolysis |
Phosphoglycerate kinase-1 |
?Xq13.3; pseudogenes PGK1P1 on Xq PGK1P2 on chr. 6 |
| 311870 |
311870 |
23.193 |
Muscle glycogenosis (3) |
Muscle glycogenosis (3) |
Phosphorylase kinase muscle alpha polypeptide |
?proximal and close to PGKA; |
| 314580 |
314580 |
23.197 |
Wieacker-Wolff syndrome (2) |
Wieacker-Wolff syndrome (2) |
Wieacker-Wolff syndrome |
linked to DXYS1 |
| 309605 |
309605 |
23.199 |
Mental retardation- X-linked- syndromic-4- with congenital contractures and low fingertip arches (2) |
Mental retardation X-linked syndromic-4 with congenital |
Miles-Carpenter syndrome (mental retardation X-linked syndromic-4 |
linked to DXYS1 |
| 314250 |
314250 |
23.201 |
Dystonia-3- torsion- with parkinsonism- Filipino type (2) |
Dystonia-3 torsion with parkinsonism Filipino type (2) |
Torsion dystonia-parkinsonism Filipino type |
|
| 304040 |
304040 |
23.202 |
Charcot-Marie-Tooth neuropathy- X-linked-1- dominant- 302800 (3) |
Charcot-Marie-Tooth neuropathy X-linked-1 dominant 302800 (3) |
Gap junction protein beta-1 32kD (connexin 32) |
|
| 312760 |
312760 |
23.206 |
Turner syndrome (1) |
|
Ribosomal protein S4 X-linked |
cen-RPS4X-PHKA1-XIST-qter in 2.6Mb |
| 314670 |
314670 |
23.214 |
X-inactivation- familial skewed (3) |
X-inactivation familial skewed (3) |
X chromosome controlling element (X-inactivation center) |
q13-q21; metaphase bend or fold at q13.3-q21.1 |
| 309600 |
309600 |
23.217 |
Allan-Herndon syndrome (2) |
Allan-Herndon syndrome (2) |
Allan-Herndon-Dudley mental retardation syndrome |
|
| 311360 |
311360 |
23.218 |
Ovarian failure- premature (2) |
Ovarian failure premature (2) |
Premature ovarian failure-1 |
|
| 300039 |
300039 |
23.22 |
Deafness- X-linked 3- conductive- with stapes fixation- 304400 (3) |
Deafness X-linked 3 conductive with stapes fixation 304400 (3) |
POU domain class 3 transcription factor 4 |
|
| 301835 |
301835 |
23.222 |
Arts syndrome (2) |
Arts syndrome (2) |
Arts syndrome |
|
| 303100 |
303100 |
23.223 |
Choroideremia (3) |
Choroideremia (3) |
Choroideremia |
|
| 303400 |
303400 |
23.224 |
Cleft palate- X-linked (2) |
Cleft palate X-linked (2) |
Cleft palate and/or ankyloglossia |
|
| 300300 |
300300 |
23.226 |
XLA and isolated growth hormone deficiency- 307200 (3) (?) |
Agammaglobulinemia type 1 X-linked (3); ?XLA and isolated growth |
Bruton agammaglobulinemia tyrosine kinase |
|
| 300300 |
300300 |
23.226 |
Agammaglobulinemia- type 1- X-linked (3) |
Agammaglobulinemia type 1 X-linked (3); ?XLA and isolated growth |
Bruton agammaglobulinemia tyrosine kinase |
|
| 309300 |
309300 |
23.227 |
Megalocornea- X-linked (2) |
Megalocornea X-linked (2) |
Megalocornea-1 X-linked |
|
| 304500 |
304500 |
23.231 |
Deafness- X-linked 2- perceptive congenital (2) |
Deafness X-linked 2 perceptive congenital (2) |
Deafness X-linked 2 perceptive congenital |
|
| 300088 |
300088 |
23.234 |
Epilepsy- female restricted- with mental retardation (2) |
Epilepsy female restricted with mental retardation (2) |
Epilepsy female restricted with mental retardation (Juberg-Hellman |
|
| 301500 |
301500 |
23.236 |
Fabry disease (3) |
Fabry disease (3) |
Galactosidase alpha |
|
| 312080 |
312080 |
23.241 |
Spastic paraplegia-2- 312920 (3) |
Pelizaeus-Merzbacher disease (3); Spastic paraplegia-2 312920 (3) |
Proteolipid protein |
|
| 312080 |
312080 |
23.241 |
Pelizaeus-Merzbacher disease (3) |
Pelizaeus-Merzbacher disease (3); Spastic paraplegia-2 312920 (3) |
Proteolipid protein |
|
| 304700 |
304700 |
23.243 |
Deafness- X-linked 1- progressive (3) |
Deafness X-linked 1 progressive (3); Mohr-Tranebjaerg syndrome (3); |
Translocase of inner mitochondrial membrane 8 yeast homolog of A |
|
| 304700 |
304700 |
23.243 |
Jensen syndrome- 311150 (3) |
Deafness X-linked 1 progressive (3); Mohr-Tranebjaerg syndrome (3); |
Translocase of inner mitochondrial membrane 8 yeast homolog of A |
|
| 304700 |
304700 |
23.243 |
Mohr-Tranebjaerg syndrome (3) |
Deafness X-linked 1 progressive (3); Mohr-Tranebjaerg syndrome (3); |
Translocase of inner mitochondrial membrane 8 yeast homolog of A |
|
| 311850 |
311850 |
23.245 |
Phosphoribosyl pyrophosphate synthetase-related gout (3) |
Phosphoribosyl pyrophosphate synthetase-related gout (3) |
Phosphoribosyl pyrophosphate synthetase-1 |
|
| 301201 |
301201 |
23.246 |
Amelogenesis imperfecta-3- hypoplastic type (2) (?) |
?Amelogenesis imperfecta-3 hypoplastic type (2) |
Amelogenesis imperfecta-3 hypomaturation or hypoplastic type |
|
| 314200 |
314200 |
23.249 |
[Euthyroidal hyper- and hypothyroxinemia] (1) |
[Euthyroidal hyper- and hypothyroxinemia] (1) |
Thyroxine-binding globulin |
|
| 303630 |
303630 |
23.251 |
Leiomyomatosis-nephropathy syndrome- 308940 (1) |
Alport syndrome 301050 (3) |
Collagen IV alpha-5 polypeptide |
diffuse leiomyomatosis with Alport syndrome = contiguous gene |
| 303630 |
303630 |
23.251 |
Alport syndrome- 301050 (3) |
Alport syndrome 301050 (3) |
Collagen IV alpha-5 polypeptide |
diffuse leiomyomatosis with Alport syndrome = contiguous gene |
| 303631 |
303631 |
23.252 |
Leiomyomatosis- diffuse- with Alport syndrome (3) |
Leiomyomatosis diffuse with Alport syndrome 308940 (3) |
Collagen IV alpha-6 polypeptide |
diffuse leiomyomatosis with Alport syndrome = contiguous gene |
| 300121 |
300121 |
23.255 |
Subcortical laminal heteropia- X-linked- 300067 (3) |
Lissencephaly X-linked 300067 (3); Subcortical laminal |
Doublecortin |
|
| 300121 |
300121 |
23.255 |
Lissencephaly- X-linked- 300067 (3) |
Lissencephaly X-linked 300067 (3); Subcortical laminal |
Doublecortin |
|
| 300046 |
300046 |
23.256 |
Mental retardation- X-linked 23- nonspecific (2) |
Mental retardation X-linked 23 nonspecific (2) |
Mental retardation X-linked-23 |
|
| 310490 |
310490 |
23.264 |
Cowchock syndrome (2) |
Cowchock syndrome (2) |
Neuropathy axonal motor-sensory with deafness and mental retardation |
|
| 301845 |
301845 |
23.265 |
Bazex syndrome (2) |
Bazex syndrome (2) |
Bazex syndrome |
|
| 307150 |
307150 |
23.266 |
Hypertrichosis- congenital generalized (2) |
Hypertrichosis congenital generalized (2) |
Hypertrichosis congenital generalized |
|
| 300123 |
300123 |
23.267 |
Mental retardation with isolated growth hormone deficiency (2) |
Mental retardation with isolated growth hormone deficiency (2) |
Mental retardation with isolated growth hormone deficiency |
|
| 308700 |
308700 |
23.27 |
Kallmann syndrome (3) |
Kallmann syndrome (3) |
Kallmann syndrome-1 sequence (anosmin-1) |
with ichthyosis in probable microdeletion syndrome |
| 308240 |
308240 |
23.274 |
Lymphoproliferative syndrome- X-linked (2) |
Lymphoproliferative syndrome X-linked (3) |
SH2 domain protein 1A |
1cM from DXS42; no recombination with DXS37 |
| 312000 |
312000 |
23.278 |
Panhypopituitarism- X-linked (2) |
Panhypopituitarism X-linked (2) |
Panhypopituitarism X-linked |
|
| 313850 |
313850 |
23.28 |
Thoracoabdominal syndrome (2) |
Thoracoabdominal syndrome (2) |
Thoracoabdominal syndrome |
|
| 304340 |
304340 |
23.281 |
Mental retardation- X-linked- syndromic-5- with Dandy-Walker malformation- basal ganglia disease- and seizures (2) |
Mental retardation X-linked syndromic-5 with Dandy-Walker |
Pettigrew syndrome (mental retardation X-linked with Dandy-Walker |
|
| 300037 |
300037 |
23.283 |
Simpson dysmorphia syndrome- 312870 (3) |
Simpson-Golabi-Behmel syndrome type 1 312870 (3) |
Glypican 3 |
|
| 309555 |
309555 |
23.285 |
Gustavson syndrome (2) |
Gustavson syndrome (2) |
Gustavson mental retardation syndrome (with microcephaly optic |
|
| 313350 |
313350 |
23.287 |
Split hand/foot malformation- type 2 (2) |
Split hand/foot malformation type 2 (2) |
Split hand/foot malformation type (ectrodactyly) 2 |
|
| 308230 |
308230 |
23.288 |
Immunodeficiency- X-linked- with hyper-IgM (3) |
Immunodeficiency X-linked with hyper-IgM (3) |
Tumor necrosis factor ligand superfamily member 5 |
Between DSX144E and DSX300 |
| 307700 |
307700 |
23.29 |
Hypoparathyroidism- X-linked (2) |
Hypoparathyroidism X-linked (2) |
Hypoparathyroidism |
|
| 308000 |
308000 |
23.295 |
HPRT-related gout (3) |
Lesch-Nyhan syndrome (3); HPRT-related gout (3) |
Hypoxanthine phosphoribosyltransferase 1 |
|
| 308000 |
308000 |
23.295 |
Lesch-Nyhan syndrome (3) |
Lesch-Nyhan syndrome (3); HPRT-related gout (3) |
Hypoxanthine phosphoribosyltransferase 1 |
|
| 300076 |
300076 |
23.297 |
Wood neuroimmunologic syndrome (2) |
Wood neuroimmunologic syndrome (2) |
Immunoneurologic syndrome X-linked of Wood Black and Norbury |
|
| 309000 |
309000 |
23.298 |
Lowe syndrome (3) |
Lowe syndrome (3) |
Oculocerebrorenal syndrome of Lowe |
|
| 300500 |
300500 |
23.3 |
Ocular albinism- Nettleship-Falls type (3) |
Ocular albinism Nettleship-Falls type (3) |
Ocular albinism-1 Nettleship-Falls type |
linked to XG |
| 301900 |
301900 |
23.301 |
Borjeson-Forssman-Lehmann syndrome (2) |
Borjeson-Forssman-Lehmann syndrome (2) |
Borjeson-Forssman-Lehmann syndrome |
?mutation in FGF13 |
| 300700 |
300700 |
23.303 |
Albinism-deafness syndrome (2) |
Albinism-deafness syndrome (2) |
Albinism-deafness syndrome |
~8cM proximal to F9 |
| 300085 |
300085 |
23.304 |
Cone dystrophy- progressive X-linked- 2 (2) |
Cone dystrophy progressive X-linked 2 (2) |
Cone dystrophy-2 X-linked |
|
| 301590 |
301590 |
23.307 |
Anophthalmos-1 (2) (?) |
?Anophthalmos-1 (2) |
Anophthalmos-1 (with mental retardation but without anomalies) |
|
| 306900 |
306900 |
23.31 |
Hemophilia B (3) |
Hemophilia B (3); Warfarin sensitivity (3) |
Coagulation factor IX (plasma thromboplastic component) |
distal to HPRT; proximal part of Xq27 |
| 300650 |
300650 |
23.31 |
Ocular albinism with sensorineural deafness (2) |
Ocular albinism with sensorineural deafness (2) |
Ocular albinism and sensorineural deafness |
?allelic to OA1 |
| 309550 |
309550 |
23.312 |
Fragile X syndrome (3) |
Fragile X syndrome (3) |
Fragile X mental retardation-1 |
8-8.7Mb from telomere |
| 300100 |
300100 |
23.315 |
Adrenoleukodystrophy (3) |
Adrenoleukodystrophy (3); Adrenomyeloneuropathy (3) |
ATP-binding cassette subfamily D member 1 |
about 650kb from GCP/RCP |
| 300100 |
300100 |
23.315 |
Adrenomyeloneuropathy (3) |
Adrenoleukodystrophy (3); Adrenomyeloneuropathy (3) |
ATP-binding cassette subfamily D member 1 |
about 650kb from GCP/RCP |
| 304800 |
304800 |
23.318 |
Diabetes insipidus- nephrogenic (3) |
Diabetes insipidus nephrogenic (3) |
Arginine vasopressin receptor-2 |
|
| 303700 |
303700 |
23.321 |
Colorblindness- blue monochromatic (3) |
Colorblindness blue monochromatic (3) |
Blue-monochromatic colorblindness (blue cone monochromacy) |
also due to deletion of GCP and RCP |
| 314400 |
314400 |
23.324 |
Cardiac valvular dysplasia-1 (2) |
Cardiac valvular dysplasia-1 (2) |
Cardiac valvular dysplasia-1 (myxomatous valvular dystrophy X-linked) |
close to F8 |
| 300126 |
300126 |
23.325 |
Dyskeratosis congenita-1- 305000 (3) |
Dyskeratosis congenita-1 305000 (3); Hoyeraal-Hreidarsson 300240 |
Dyskerin |
|
| 310300 |
310300 |
23.328 |
Emery-Dreifuss muscular dystrophy (3) |
Emery-Dreifuss muscular dystrophy (3) |
Emery-Dreifuss muscular dystrophy |
in distal Xq28 |
| 306700 |
306700 |
23.33 |
Hemophilia A (3) |
Hemophilia A (3) |
Coagulation factor VIIIc procoagulant component |
cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere |
| 309548 |
309548 |
23.332 |
Mental retardation- X-linked- FRAXE type (3) |
Mental retardation X-linked FRAXE type (3) |
Fragile site X-linked E |
|
| 300031 |
300031 |
23.333 |
Mental retardation- X-linked- FRAXF type (3) |
Mental retardation X-linked FRAXF type (3) |
Fragile site folic acid type rare fra(X)(q28) |
distal to FRAXA and FRAXE |
| 305900 |
305900 |
23.334 |
Favism (3) |
G6PD deficiency (3); Favism (3); Hemolytic anemia due |
Glucose-6-phosphate dehydrogenase |
telomeric to GDX; proximal to F8 in same 290kb PFGE fragment; |
| 305900 |
305900 |
23.334 |
G6PD deficiency (3) |
G6PD deficiency (3); Favism (3); Hemolytic anemia due |
Glucose-6-phosphate dehydrogenase |
telomeric to GDX; proximal to F8 in same 290kb PFGE fragment; |
| 305900 |
305900 |
23.334 |
Hemolytic anemia due to G6PD deficiency (3) |
G6PD deficiency (3); Favism (3); Hemolytic anemia due |
Glucose-6-phosphate dehydrogenase |
telomeric to GDX; proximal to F8 in same 290kb PFGE fragment; |
| 300104 |
300104 |
23.337 |
Mental retardation- X-linked nonspecific- 309541 (3) |
Mental retardation X-linked nonspecific 309541 (3) |
GDP dissociation inhibitor 1 |
|
| 306995 |
306995 |
23.338 |
[?Homosexuality- male] (2) |
[?Homosexuality male] (2) |
Homosexuality male |
|
| 303800 |
303800 |
23.339 |
Colorblindness- deutan (3) |
Colorblindness deutan (3) |
Green cone pigment |
linked to G6PD; multiple genes |
| 309900 |
309900 |
23.343 |
Mucopolysaccharidosis II (3) |
Mucopolysaccharidosis II (3) |
Iduronate 2-sulfatase (Hunter syndrome) |
telomeric IDS2 source of inversion in IDS |
| 300048 |
300048 |
23.346 |
Intestinal pseudoobstruction- neuronal- X-linked (2) |
Intestinal pseudoobstruction neuronal X-linked (2) |
Intestinal pseudoobstruction neuronal primary idiopathic |
|
| 308840 |
308840 |
23.349 |
Hydrocephalus due to aqueductal stenosis- 307000 (3) |
Hydrocephalus due to aqueductal stenosis 307000 (3); MASA |
L1 cell adhesion molecule |
between RCP/GCP cluster and G6PD |
| 308840 |
308840 |
23.349 |
Spastic paraplegia- 312900 (3) |
Hydrocephalus due to aqueductal stenosis 307000 (3); MASA |
L1 cell adhesion molecule |
between RCP/GCP cluster and G6PD |
| 308840 |
308840 |
23.349 |
MASA syndrome- 303350 (3) |
Hydrocephalus due to aqueductal stenosis 307000 (3); MASA |
L1 cell adhesion molecule |
between RCP/GCP cluster and G6PD |
| 309200 |
309200 |
23.35 |
Manic-depressive illness- X-linked (2) (?) |
?Manic-depressive illness X-linked (2) |
Major affective disorder-2 |
linkage to G6PDCB in non-Ashkenazi Jews |
| 311200 |
311200 |
23.35 |
Oral-facial-digital syndrome 1 (2) |
Oral-facial-digital syndrome 1 (2) |
Oral-facial-digital syndrome 1 |
|
| 309620 |
309620 |
23.359 |
Mental retardation-skeletal dysplasia (2) |
Mental retardation-skeletal dysplasia (2) |
Mental retardation-skeletal dysplasia |
|
| 310400 |
310400 |
23.363 |
Myotubular myopathy- X-linked (3) |
Myotubular myopathy X-linked (3) |
Myotubularin |
close to F8 |
| 310460 |
310460 |
23.365 |
Myopia-1 (2) |
Myopia-1 (2); Bornholm eye disease (2) |
Myopia X-linked (Bornholm eye disease) |
|
| 310460 |
310460 |
23.365 |
Bornholm eye disease (2) |
Myopia-1 (2); Bornholm eye disease (2) |
Myopia X-linked (Bornholm eye disease) |
|
| 311300 |
311300 |
23.366 |
Otopalatodigital syndrome- type I (2) |
Otopalatodigital syndrome type I (2) |
Otopalatodigital syndrome type I |
|
| 300055 |
300055 |
23.369 |
Mental retardation with psychosis- pyramidal signs- and macroorchidism (2) |
Mental retardation with psychosis pyramidal signs and |
Mental retardation with psychosis pyramidal signs and macroorchidism |
|
| 303900 |
303900 |
23.37 |
Colorblindness- protan (3) |
Colorblindness protan (3) |
Red cone pigment |
5' to CBD |
| 301200 |
301200 |
23.37 |
Amelogenesis imperfecta (3) |
Amelogenesis imperfecta (3) |
Amelogenin |
also Y |
| 302060 |
302060 |
23.378 |
Endocardial fibroelastosis-2 (2) |
Endocardial fibroelastosis-2 (2); Barth syndrome (3); Cardiomyopathy |
Tafazzin |
|
| 302060 |
302060 |
23.378 |
Barth syndrome (3) |
Endocardial fibroelastosis-2 (2); Barth syndrome (3); Cardiomyopathy |
Tafazzin |
|
| 302060 |
302060 |
23.378 |
Noncompaction of left ventricular myocardium- isolated (3) |
Endocardial fibroelastosis-2 (2); Barth syndrome (3); Cardiomyopathy |
Tafazzin |
|
| 302060 |
302060 |
23.378 |
Cardiomyopathy- X-linked dilated- 300069 (3) |
Endocardial fibroelastosis-2 (2); Barth syndrome (3); Cardiomyopathy |
Tafazzin |
|
| 300077 |
300077 |
23.38 |
Mental retardation- X-linked 29 (2) |
Mental retardation X-linked 29 (2) |
Mental retardation X-linked-29 |
|
| 314300 |
314300 |
23.38 |
Goeminne TKCR syndrome (2) |
Goeminne TKCR syndrome (2) |
Torticollis keloids cryptorchidism and renal dysplasia |
distal to G6PD |
| 300044 |
300044 |
23.381 |
{?Wernicke-Korsakoff syndrome- susceptibility to} (1) |
{?Wernicke-Korsakoff syndrome susceptibility to} (1) |
Transketolase-like 1 |
between GCP and FLN1 |
| 311510 |
311510 |
23.383 |
Waisman parkinsonism-mental retardation syndrome (2) |
Waisman parkinsonism-mental retardation syndrome (2) |
Waisman syndrome (basal ganglion disorder with mental retardation) |
|
| 312865 |
312865 |
23.4 |
Langer mesomelic dysplasia- 249700 (3) |
Short stature idiopathic familial (3); Leri-Weill |
Growth control factor X-linked (pseudoautosomal homeo box-containing |
?gene causing short stature in Turner syndrome |
| 312865 |
312865 |
23.4 |
Short stature- idiopathic familial (3) |
Short stature idiopathic familial (3); Leri-Weill |
Growth control factor X-linked (pseudoautosomal homeo box-containing |
?gene causing short stature in Turner syndrome |
| 312865 |
312865 |
23.4 |
Leri-Weill dyschondrosteosis- 127300 (3) |
Short stature idiopathic familial (3); Leri-Weill |
Growth control factor X-linked (pseudoautosomal homeo box-containing |
?gene causing short stature in Turner syndrome |
| 302350 |
302350 |
23.4 |
Nance-Horan syndrome (2) |
Nance-Horan syndrome (2) |
Nance-Horan cataract-dental syndrome |
|
| 312040 |
312040 |
23.41 |
N syndrome- 310465 (1) (?) |
?N syndrome 310465 (1) |
Polymerase (DNA directed) alpha |
proximal to ZFX |
| 302801 |
302801 |
23.43 |
Charcot-Marie-Tooth neuropathy- X-linked-2- recessive (2) |
Charcot-Marie-Tooth neuropathy X-linked-2 recessive (2) |
Charcot-Marie-Tooth disease X-linked-2 recessive |
|
| 305435 |
305435 |
23.44 |
Heterocellular hereditary persistence of fetal hemoglobin- Swiss type (2) |
Heterocellular hereditary persistence of fetal hemoglobin Swiss type |
F-cell production 1 |
|
| 308800 |
308800 |
23.47 |
Keratosis follicularis spinulosa decalvans (2) |
Keratosis follicularis spinulosa decalvans (2) |
Keratosis follicularis spinulosa decalvans |
|
| 312170 |
312170 |
23.5 |
Pyruvate dehydrogenase deficiency (3) |
Pyruvate dehydrogenase deficiency (3) |
Pyruvate dehydrogenase E1-alpha polypeptide-1 |
|
| 307800 |
307800 |
23.51 |
Hypophosphatemia- hereditary (3) |
Hypophosphatemia hereditary (3) |
Phosphate regulating gene with homologies to endopeptidases on the X |
|
| 306000 |
306000 |
23.52 |
Glycogenosis- X-linked hepatic- type I (3) |
Glycogenosis X-linked hepatic type I (3); Glycogenosis X-linked |
Phosphorylase kinase deficiency liver (glycogen storage disease |
|
| 306000 |
306000 |
23.52 |
Glycogenosis- X-linked hepatic- type II (3) |
Glycogenosis X-linked hepatic type I (3); Glycogenosis X-linked |
Phosphorylase kinase deficiency liver (glycogen storage disease |
|
| 309510 |
309510 |
23.54 |
Mental retardation- X-linked- syndromic-1- with dystonic movements- ataxia- and seizures (2) |
Mental retardation X-linked syndromic-1 with dystonic |
Partington syndrome (mental retardation X-linked syndromic-1 with |
linked to DXS41 |
| 300075 |
300075 |
23.55 |
Coffin-Lowry syndrome- 303600 (3) |
Coffin-Lowry syndrome 303600 (3); Mental retardation X-linked |
Ribosomal protein S6 kinase 90kD polypeptide 3 |
|
| 312700 |
312700 |
23.56 |
Retinoschisis (3) |
Retinoschisis (3) |
Retinoschisis |
25cM from XG |
| 300029 |
300029 |
23.58 |
Retinitis pigmentosa-15 (2) |
Retinitis pigmentosa-15 (2) |
Retinitis pigmentosa-15 |
|
| 306100 |
306100 |
23.6 |
Gonadal dysgenesis- XY female type (2) |
Gonadal dysgenesis XY female type (2) |
Gonadal dysgenesis XY female type |
?same as ZFX |
| 311770 |
311770 |
23.62 |
Paroxysmal nocturnal hemoglobinuria (3) |
Paroxysmal nocturnal hemoglobinuria (3) |
Phosphatidylinositol glycan class A |
pseudogene on chr.12 |
| 300310 |
300310 |
23.72 |
Agammaglobulinemia- type 2- X-linked (2) |
Agammaglobulinemia type 2 X-linked (2) |
Agammaglobulinemia X-linked 2 (with growth hormone deficiency) |
|
| 304050 |
304050 |
23.73 |
Aicardi syndrome (2) |
Aicardi syndrome (2) |
Aicardi syndrome |
?in p22.31 with FDH as contiguous gene syndrome |
| 304110 |
304110 |
23.74 |
Craniofrontonasal dysplasia (2) |
Craniofrontonasal dysplasia (2) |
Craniofrontonasal syndrome |
|
| 300066 |
300066 |
23.75 |
Deafness- X-linked 6- sensorineural (2) |
Deafness X-linked 6 sensorineural (2) |
Deafness X-linked 6 sensorineural |
|
| 300000 |
300000 |
23.77 |
Opitz G syndrome- type I (3) |
Opitz G syndrome type I (3) |
Midline-1 |
type II defect on chr.22 |
| 301220 |
301220 |
23.81 |
Partington syndrome II (2) |
Partington syndrome II (2) |
Pigment disorder reticulate |
|
| 300200 |
300200 |
23.87 |
Adrenal hypoplasia- congenital- with hypogonadotropic hypogonadism (3) |
Adrenal hypoplasia congenital with hypogonadotropic hypogonadism |
DSS-AHC critical region on the X chromosome gene 1 |
distal to GK |
| 307030 |
307030 |
23.88 |
Glycerol kinase deficiency (3) |
Glycerol kinase deficiency (3); Hyperglycerolemia (3) |
Glycerol kinase deficiency |
2Mb distal to DMD; pseudogene on 4q32 |
| 312612 |
312612 |
23.89 |
Retinitis pigmentosa-6 (2) (?) |
?Retinitis pigmentosa-6 (2) |
Retinitis pigmentosa-6 X-linked recessive |
|
| 306250 |
306250 |
23.9 |
Leukemia- acute myeloid- M2 type (1) |
Leukemia acute myeloid M2 type (1) |
Colony-stimulating factor-2 receptor alpha low-affinity |
order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen |
| 300030 |
300030 |
23.9 |
Deafness- X-linked 4- congenital sensorineural (2) |
Deafness X-linked 4 congenital sensorineural (2) |
Deafness 4 congenital sensorineural |
?same as DMD |
| 310200 |
310200 |
23.91 |
Duchenne muscular dystrophy (3) |
Duchenne muscular dystrophy (3); Becker muscular dystrophy (3); |
Dystrophin (muscular dystrophy Duchenne and Becker types) |
dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 |
| 310200 |
310200 |
23.91 |
Cardiomyopathy- dilated- X-linked (3) |
Duchenne muscular dystrophy (3); Becker muscular dystrophy (3); |
Dystrophin (muscular dystrophy Duchenne and Becker types) |
dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 |
| 310200 |
310200 |
23.91 |
Becker muscular dystrophy (3) |
Duchenne muscular dystrophy (3); Becker muscular dystrophy (3); |
Dystrophin (muscular dystrophy Duchenne and Becker types) |
dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13 |
| 314850 |
314850 |
23.92 |
McLeod phenotype (3) |
McLeod phenotype (3) |
Kell blood group precursor |
~500kb distal to CGD |
| 306400 |
306400 |
23.95 |
Chronic granulomatous disease- X-linked (3) |
Chronic granulomatous disease X-linked (3) |
Cytochrome b-245 beta polypeptide |
proximal to DMD |
| 311250 |
311250 |
23.96 |
Ornithine transcarbamylase deficiency (3) |
Ornithine transcarbamylase deficiency (3) |
Ornithine transcarbamylase |
proximal to DMD CGD |
| 312610 |
312610 |
23.97 |
Retinitis pigmentosa-3 (3) |
Retinitis pigmentosa-3 (3) |
Retinitis pigmentosa GTPase regulator |
|
| 309585 |
309585 |
23.99 |
Mental retardation- X-linked- syndromic-6- with gynecomastia and obesity (2) |
Mental retardation X-linked syndromic-6 with gynecomastia and |
Wilson-Turner syndrome (mental retardation X-linked syndromic-6 |
|
| 415000 |
415000 |
24.16 |
Sertoli-cell-only syndrome (1) (?) |
?Sertoli-cell-only syndrome (1) |
Azoospermia factor 1 |
|
| 400003 |
400003 |
24.17 |
Sertoli-cell-only syndrome (1) (?) |
?Sertoli-cell-only syndrome (1) |
Deleted in azoospermia |
?same as AZF |
| 480000 |
480000 |
24.7 |
Gonadal dysgenesis- XY type (3) |
Gonadal dysgenesis XY type (3) |
Sex-determining region Y (testis determining factor) |
|