Disease #00187 (MRX;IDX (mental retardation, X-linked (MRX, intellectual disability (IDX))))

Official abbreviation MRX;IDX
Name mental retardation, X-linked (MRX, intellectual disability (IDX))
OMIM ID -
Inheritance -
Individuals reported having this disease 1916
Phenotype entries for this disease 1901
Associated with 3 genes ARX, CXorf56, IL1RAPL1
Associated tissues -
Disease features X-linked
Remarks -


Individuals

1916 entries on 20 pages. Showing entries 1 - 100.
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
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Owner     
00000166 - PubMed: Tarpey 2009 208 families with X-linked mental retardation M - ? (unknown) - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond HSD17B10, OFD1 HSD17B10, OFD1 3 208 Johan den Dunnen
00000406 - PubMed: Cacciagli 2014 5-generation family, 4 affecteds, 3 unaffected carrier females M no United States Dutch - - - - MRX;IDX see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures AP1S2 AP1S2 1 4 Laurent Villard
00002444 19377101-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002445 19377102-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 167 Lucy Raymond
00002446 19377103-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002447 19377104-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 14 Lucy Raymond
00002448 19377105-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00002449 19377106-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - BCOR BCOR 1 1 Lucy Raymond
00003120 - PubMed: Raynaud 2000 family MRX74, 3-generation family, 6 affecteds and 4 healthy carrier females M no France - - - - - MRX;IDX - EFHC2 EFHC2 1 10 Johan den Dunnen
00003121 19377107-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 1 Lucy Raymond
00003122 19377108-Pat? PubMed: Tarpey 2009 summary data are given - M no - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 1 Lucy Raymond
00003123 19377109-Pat? PubMed: Tarpey 2009 only summary data are given - M no - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 12 Lucy Raymond
00003124 19377110-Pat? PubMed: Tarpey 2009 only summary data are given - M no - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFHC2 EFHC2 1 15 Lucy Raymond
00003125 19377111-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFNB1 EFNB1 1 1 Lucy Raymond
00003126 19377112-Pat? PubMed: Tarpey 2009 only summary data are given - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - EFNB1 EFNB1 1 1 Lucy Raymond
00003177 - PubMed: Stromme 2002 family, 7 affected males M no Australia - - - - - MRX;IDX mental retardation ARX ARX 1 7 Johan den Dunnen
00003178 - PubMed: Stromme 2002 family, 4 affected males M no Australia - - - - - MRX;IDX mental retardation ARX ARX 1 4 Johan den Dunnen
00004306 19377113-Pat? PubMed: Tarpey 2009 - ? ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00004307 19377114-Pat? PubMed: Tarpey 2009 - ? ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00004308 19377115-Pat? PubMed: Tarpey 2009 - ? ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - G6PD G6PD 1 1 Lucy Raymond
00016861 Pat21 PubMed: Tzschach 2015 2-generation family, 1 affected, heterozygous carrier mother/sister M - - - - - - - MRX;IDX moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features PHF6 PHF6 1 1 Andreas Tzschach
00016919 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 4 Lucy Raymond
00016920 19377117-Pat? PubMed: Tarpey 2009 . M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 1 Lucy Raymond
00016921 19377118-Pat? PubMed: Tarpey 2009 . M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - USP9X USP9X 1 1 Lucy Raymond
00016923 19377119-Pat? PubMed: Tarpey 2009 . M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - - - - 1 Lucy Raymond
00016924 - PubMed: Tarpey 2009 3-generation family, 3 affected males, 2 unaffected carrier females M no - - - - - - MRX;IDX - USP9X USP9X 1 1 Johan den Dunnen
00016931 - PubMed: Tarpey 2004, Journal: Tarpey 2004 4-generation family, 5 affected males, 4 unaffected carrier females M no Australia - - - - - MRX;IDX see paper; {PMID:Turner 2003:12599187} AP1S2 AP1S2 1 5 Johan den Dunnen
00016932 Fam1 PubMed: Tzschach 2015 family, 4 affected, unaffected heterozygous carriermother/grandmother M - Poland - - - - - MRX;IDX moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability AP1S2 AP1S2 1 4 Andreas Tzschach
00016952 19377120-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - DLG3 DLG3 1 1 Lucy Raymond
00016953 19377121-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - DLG3 DLG3 1 1 Lucy Raymond
00016954 19377122-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016955 19377123-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016956 19377124-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016957 19377125-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - KDM5C KDM5C 1 1 Lucy Raymond
00016958 19377126-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 12 Lucy Raymond
00016959 19377127-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016960 19377128-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016961 19377129-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - OPHN1 OPHN1 1 1 Lucy Raymond
00016962 19377130-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC16A2 SLC16A2 1 1 Lucy Raymond
00016963 19377131-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UBE2A UBE2A 1 1 Lucy Raymond
00016964 19377132-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UBE2A UBE2A 1 1 Lucy Raymond
00016965 19377133-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016966 19377134-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016967 19377135-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016968 19377136-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016969 19377137-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016970 19377138-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016971 19377139-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - CUL4B CUL4B 1 1 Lucy Raymond
00016972 19377140-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016973 19377141-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016974 19377142-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016975 19377143-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - UPF3B UPF3B 1 1 Lucy Raymond
00016976 19377144-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016977 19377145-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016978 19377146-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - ZDHHC9 ZDHHC9 1 1 Lucy Raymond
00016979 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 8 affected males, 7 unaffected heterozygous carrier females M no United States ? - - - - MRX;IDX see paper; ... IQSEC2 IQSEC2 1 8 Johan den Dunnen
00016980 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems M no Australia 8 - - - - MRX;IDX moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... IQSEC2 IQSEC2 1 1 Johan den Dunnen
00016981 - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 8 unaffected heterozygous carrier females M no Australia - - - - - MRX;IDX all affected males remained non-syndromic with general good health; 2 males (III6,IV22) developed psychiatric problems and V5 has infrequent seizures; carrier females were less academically ablecompared to their non-carrier siblings; majority carrier F are well (1 developed schizophrenia) IQSEC2 IQSEC2 1 12 Johan den Dunnen
00016982 19377147-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016983 19377148-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016984 19377149-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 54 Lucy Raymond
00016985 19377150-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 1 Lucy Raymond
00016986 19377151-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - MED12 MED12 1 2 Lucy Raymond
00016987 19377152-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016988 19377153-Pat? PubMed: Gilfillan 2008, PubMed: Tarpey 2009 3-generation family, 2 affected males, 3 female carriers unaffected M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 2 Lucy Raymond
00016989 19377154-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016990 19377155-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 9 Lucy Raymond
00016991 19377156-Pat? PubMed: Tarpey 2009, PubMed: Christianson 1999, PubMed: Gilfillan 2008 family, 2 affected males M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 2 Lucy Raymond
00016992 19377157-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - SLC9A6 SLC9A6 1 1 Lucy Raymond
00016996 - - - ? - ? (unknown) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016997 - - - ? - ? (unknown) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016998 - - - ? - ? (unknown) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00016999 - - - ? - ? (unknown) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00017000 - - - ? - ? (unknown) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 1 Birgit Neitzel
00017001 18342287-FamA PubMed: Gilfillan 2008 3-generation family, 3 affected males, 3 female carriers unaffected M - Norway ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 3 Johan den Dunnen
00017002 18342287-FamC PubMed: Gilfillan 2008 3-generation family, 3 affected males, 1 female carrier unaffected M - United Kingdom (Great Britain) ? - - - - MRX;IDX - SLC9A6 SLC9A6 1 3 Johan den Dunnen
00017006 Fam5 PubMed: Tzschach 2015 2-generation family, affected boy and maternal uncle, unaffected heterozygous carrier mother/grandmother M - ? (unknown) ? - - - - MRX;IDX moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy CUL4B CUL4B 1 2 Andreas Tzschach
00017007 Fam6 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - ? (unknown) ? - - - - MRX;IDX moderate intellectual disability, macrocephaly, obesity CUL4B CUL4B 1 2 Andreas Tzschach
00017008 Pat14 PubMed: Tzschach 2015 - M - Turkey ? - - - - MRX;IDX intellectual disability, borderline short stature (height 142 cm, 3rd centile), borderline microcephaly (OFC 52 cm, 3rd-10th centile), normal weight (40 kg, 25th centile), body proportions gave impression central obesity; 12y-hearing loss; coarse face, small ears, broad nose, bulbous nasal tip, epicanthus, thick lips, everted lower lip, brachydactyly, bilateral 2/3 toe syndactyly, sandal gap CUL4B CUL4B 1 1 Andreas Tzschach
00017014 Fam7 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected non-carrier mother M - ? (unknown) ? - - - - MRX;IDX severe non-syndromic intellectual disability IQSEC2 IQSEC2 1 1 Andreas Tzschach
00017015 Pat19 PubMed: Tzschach 2015 - F - ? (unknown) ? - - - - MRX;IDX severe intellectual disability, epilepsy, borderline macrocephaly IQSEC2 IQSEC2 1 1 Andreas Tzschach
00017016 Fam8 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected carrier mother M - ? (unknown) ? - - - - MRX;IDX severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism KDM5C KDM5C 1 2 Andreas Tzschach
00017017 Fam10 PubMed: Tzschach 2015, (Maiwald in preparation 2-generation family, 2 affected brothers/mother M - ? (unknown) ? - - - - MRX;IDX brothers moderate intellectual disability, short stature, microcephaly; mother learning problems MED12 MED12 1 2 Andreas Tzschach
00017018 Fam11 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - ? (unknown) ? - - - - MRX;IDX brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney OPHN1 OPHN1 1 2 Andreas Tzschach
00017019 Fam12 PubMed: Tzschach 2015 - M - ? (unknown) ? - - - - MRX;IDX moderate intellectual disability, facial dysmorphism, hypertelorism, epicanthus; mothe mild intellectual disability, psychiatric problems; maternal uncle had severe intellectual disability UPF3B UPF3B 1 1 Andreas Tzschach
00017020 Fam13 PubMed: Tzschach 2015 family, 4 affected males M - Turkey ? - - - - MRX;IDX moderate intellectual disability, normal body measurements; 10y-surgery for left-sided ureteropelvic junction obstruction, postoperative keloid; mild cutaneous syndactyly 2nd and 3rd toes, no malformations, no significant dysmorphic signs; 3 maternal aunt cousins similar phenotype, strabismus (1/4) ZDHHC9 ZDHHC9 1 4 Andreas Tzschach
00017021 Pat15 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - ? (unknown) ? - - - - MRX;IDX mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal DLG3 DLG3 1 1 Andreas Tzschach
00017022 Pat16 PubMed: Tzschach 2015 conceived after anonymous egg donation M - ? (unknown) ? - - - - MRX;IDX born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile) SLC9A6 SLC9A6 1 1 Andreas Tzschach
00017023 Pat6;Pat18 PubMed: Czeschik 2013, PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected non-carrier mother M - ? (unknown) ? - - - - MRX;IDX born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy UBE2A UBE2A 1 1 Andreas Tzschach
00017024 Pat20 PubMed: Tzschach 2015 family, 1 affected, unaffected heterozygous carrier mother/grandmother M - ? (unknown) ? - - - - MRX;IDX severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3 SLC16A2 SLC16A2 1 1 Andreas Tzschach
00017030 Fam9 PubMed: Tzschach 2015 2-generation family, affected son/sister/mother F;M - ? (unknown) ? - - - - MRX;IDX moderate intellectual disability, 6y-seizures; sister mild intellectual disability, 47y-short stature (height 148 cm, <3rd centile), microcephaly (OFC 50.5 cm, <3rd centile), obese (weight 87 kg), strabismus, hyperopia, no seizures; mother learning problems, 66y-died KDM5C KDM5C 1 3 Andreas Tzschach
00017895 19377158-Pat? PubMed: Tarpey 2009 - M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) IL1RAPL1 IL1RAPL1 1 1 Lucy Raymond
00017896 19377159-Pat? PubMed: Tarpey 2009 - M ? - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX for details contact Lucy Raymond (flr24 @ cam.ac.uk) IL1RAPL1 IL1RAPL1 1 1 Lucy Raymond
00017898 - PubMed: Carrie 1999 2-generation family, 3 affected brothers M no - - - - - - MRX;IDX - IL1RAPL1 IL1RAPL1 1 3 Johan den Dunnen
00017899 - PubMed: Carrie 1999 - M no - - - - - - MRX;IDX - IL1RAPL1 IL1RAPL1 1 1 Johan den Dunnen
00024220 - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - - - - MRX;IDX moderate ID, nonsyndromic CUL4B CUL4B 1 7 Johan den Dunnen
00024221 - PubMed: Wibley 2010 3-generation family, 3 affecteds, unaffected carrier females M - - - - - - - MRX;IDX - PTCHD1 PTCHD1 1 3 Johan den Dunnen
00024222 - PubMed: Wibley 2010 4-generation family, 3 affecteds, 2 carrier females M - - - - - - - MRX;IDX - WDR13 WDR13 1 3 Johan den Dunnen
00024223 - PubMed: Wibley 2010 2-generation family, 2 affecteds M - - - - - - - MRX;IDX degenerative eye disease FAAH2 FAAH2 1 2 Johan den Dunnen
00024224 - PubMed: Wibley 2010 2-generation family, 2 affecteds, carrier mother M - - - - - - - MRX;IDX - GSPT2 GSPT2 1 2 Johan den Dunnen
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