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

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)

Protein: result from protein staining

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

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Phenotype ID	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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