Intellectual deficit, X-linked, Wilson type

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS12
Number of Symptoms 21
OrphanetNr: 85290
OMIM Id: 309545
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000215) Thick upper lip vermilion 17 / 7739
2
(HPO:0000303) Mandibular prognathia 179 / 7739
3
(HPO:0000154) Wide mouth 137 / 7739
4
(HPO:0000321) Square face 4 / 7739
5
(HPO:0000179) Thick lower lip vermilion 72 / 7739
6
(HPO:0000248) Brachycephaly 222 / 7739
7
(HPO:0012471) Thick vermilion border 115 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0001270) Motor delay 322 / 7739
11
(HPO:0002357) Dysphasia 33 / 7739
12
(HPO:0002381) Aphasia 27 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0000750) Delayed speech and language development 197 / 7739
15
(HPO:0008897) Postnatal growth retardation 113 / 7739
16
(HPO:0001510) Growth delay 295 / 7739
17
(HPO:0002721) Immunodeficiency 97 / 7739
18
(HPO:0002718) Recurrent bacterial infections 75 / 7739
19
(HPO:0002719) Recurrent infections 107 / 7739
20
(OMIM) Absent or delayed speech 2 / 7739
21
(OMIM) Frontal hair whorl 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wilson et al. (1992) described an apparently 'new' type of nonspecific X-linked mental retardation in 3 generations of a family. Three affected males had severe mental retardation (IQ 20-30), mutism, growth failure, frequent infections, seizures, and the following ...