Phenotypes for disease #00187 (MRX;IDX (mental retardation, X-linked (MRX, intellectual disability (IDX))))

1901 entries on 20 pages. Showing entries 1 - 100.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

Protein     

Owner     

Individual ID     
0000001938 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00003120
0000001939 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003121
0000001940 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003122
0000001941 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003123
0000001942 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003124
0000001943 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003125
0000001944 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00003126
0000003023 - - - Unknown - - - - - - Lucy Raymond 00004306
0000003024 - - - Unknown - - - - - - Lucy Raymond 00004307
0000003025 - - - Unknown - - - - - - Lucy Raymond 00004308
0000015270 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016919
0000015271 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016920
0000015272 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016921
0000015274 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00000004
0000015275 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00016924
0000015298 see paper; {PMID:Turner 2003:12599187} - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00016931
0000015299 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 intellectual disability - Familial, X-linked recessive 25y - - - - - Andreas Tzschach 00016932
0000015311 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016952
0000015312 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016953
0000015313 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016954
0000015314 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016955
0000015315 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016956
0000015316 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016957
0000015317 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016958
0000015318 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016959
0000015319 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016960
0000015320 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016961
0000015321 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016962
0000015322 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016963
0000015323 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016964
0000015324 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016965
0000015325 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016966
0000015326 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016967
0000015327 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016968
0000015328 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016969
0000015329 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016970
0000015330 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016971
0000015331 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016972
0000015332 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016973
0000015333 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016974
0000015334 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016975
0000015335 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016976
0000015336 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016977
0000015337 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016978
0000015338 see paper; ... - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00016979
0000015339 moderate to severe ID, seizures in some males from adolescence; female carriers with varying level IS; see paper ... - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00016980
0000015340 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) - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00016981
0000015341 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016982
0000015342 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016983
0000015343 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016984
0000015344 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016985
0000015345 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016986
0000015346 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016987
0000015347 - - - Familial - - - - - - Lucy Raymond 00016988
0000015348 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016989
0000015349 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016990
0000015350 - - - Familial - - - - - - Lucy Raymond 00016991
0000015351 - - - Familial, X-linked recessive - - - - - - Lucy Raymond 00016992
0000015355 - - - Unknown - - - - - - Birgit Neitzel 00016996
0000015356 - - - Unknown - - - - - - Birgit Neitzel 00016997
0000015357 - - - Unknown - - - - - - Birgit Neitzel 00016998
0000015358 - - - Unknown - - - - - - Birgit Neitzel 00016999
0000015359 - - - Unknown - - - - - - Birgit Neitzel 00017000
0000015360 - - - Unknown - - - - - - Johan den Dunnen 00017001
0000015361 - - - Unknown - - - - - - Johan den Dunnen 00017002
0000015365 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 intellectual disability - Familial, X-linked recessive 17y - - - - - Andreas Tzschach 00017006
0000015366 moderate intellectual disability, macrocephaly, obesity intellectual disability - Familial, X-linked recessive 30y - - - - - Andreas Tzschach 00017007
0000015367 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 intellectual disability - Isolated (sporadic) 13y - - - - - Andreas Tzschach 00017008
0000015373 severe non-syndromic intellectual disability intellectual disability - Unknown - - - - - - Andreas Tzschach 00017014
0000015374 severe intellectual disability, epilepsy, borderline macrocephaly intellectual disability - Unknown - - - - - - Andreas Tzschach 00017015
0000015375 severe intellectual disability, OFC 90th centile, short stature, strabismus; younger brothe short stature, moderate intellectual disability, OFC 10th centile, cryptorchidism intellectual disability - Familial, X-linked 14y - - - - - Andreas Tzschach 00017016
0000015376 brothers moderate intellectual disability, short stature, microcephaly; mother learning problems intellectual disability - Familial, X-linked recessive - - - - - - Andreas Tzschach 00017017
0000015377 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 intellectual disability - Familial, X-linked recessive - - - - - - Andreas Tzschach 00017018
0000015378 moderate intellectual disability, facial dysmorphism, hypertelorism, epicanthus; mothe mild intellectual disability, psychiatric problems; maternal uncle had severe intellectual disability intellectual disability - Familial, X-linked recessive - - - - - - Andreas Tzschach 00017019
0000015379 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) intellectual disability MRXSR Familial, X-linked recessive 15y - - - - - Andreas Tzschach 00017020
0000015380 mild-moderate intellectual disability, 3y-seizures, no malformations, no facial dysmorphism, MRI brain normal intellectual disability - Familial, X-linked recessive 03y - - - - - Andreas Tzschach 00017021
0000015381 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) intellectual disability - Unknown - - - - - - Andreas Tzschach 00017022
0000015382 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 intellectual disability - Isolated (sporadic) - - - - - - Andreas Tzschach 00017023
0000015383 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 Allan-Herndon-Dudley syndrome - Familial, X-linked recessive 17y - - - - - Andreas Tzschach 00017024
0000015389 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 intellectual disability - Familial, X-linked 48y - - - - - Andreas Tzschach 00017030
0000015392 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 Börjeson-Forssman-Lehmann syndrome - Unknown 15y - - - - - Andreas Tzschach 00016861
0000016248 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Familial, X-linked recessive - - - - - - Lucy Raymond 00017895
0000016249 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Familial, X-linked recessive - - - - - - Lucy Raymond 00017896
0000016251 - - - Isolated (sporadic) - - - - - - Johan den Dunnen 00017898
0000016252 - - - Familial, X-linked dominant - - - - - - Johan den Dunnen 00017899
0000020327 moderate ID, nonsyndromic - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00024220
0000020328 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00024221
0000020329 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00024222
0000020330 degenerative eye disease - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00024223
0000020331 - - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00024224
0000021604 see paper - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00025489
0000021605 see paper {PMID:Carpenter 1999:10398241} - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00025490
0000021606 see paper; Fried syndrome, mental retardation, mild facial dysmorphism, calcifications of basal ganglia, hydrocephalus - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00025491
0000021607 see paper; {PMID:Fried 1973:04697849}, Fried syndrome - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00025492
0000021608 see paper, {PMID:Huang 1991:1746558}; mental retardation, Dandy-Walker malformation, basal ganglia disease, seizures - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00000406
0000021609 see paper - - Familial, X-linked recessive - - - - - - Johan den Dunnen 00025493
0000021610 see paper - - Isolated (sporadic) - - - - - - Johan den Dunnen 00025494
0000021611 see paper; marked hypotonia first months of life, psychomotor retardation, severely delayed walking/speech development, unspecific dysmorphic facial feature - - Isolated (sporadic) - - - - - - Johan den Dunnen 00025495
0000021887 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Familial, X-linked recessive - - - - - - Lucy Raymond 00025771
0000021888 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Familial, X-linked recessive - - - - - - Lucy Raymond 00025772
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