MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA, AND GAIT DISTURBANCE
MRXSCS
Number of Symptoms 26
OrphanetNr:
OMIM Id: 300861
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 644 / 7739
2
(HPO:0002720) IgA deficiency 33 / 7739
3
(HPO:0004315) IgG deficiency 38 / 7739
4
(HPO:0002850) IgM deficiency 18 / 7739
5
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
6
(HPO:0007178) Motor polyneuropathy 31 / 7739
7
(HPO:0009830) Peripheral neuropathy rare [HPO:skoehler] 206 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0001263) Global developmental delay 853 / 7739
10
(HPO:0002342) Intellectual disability, moderate 37 / 7739
11
(HPO:0002465) Poor speech 31 / 7739
12
(HPO:0002317) Unsteady gait 45 / 7739
13
(HPO:0001250) Seizures 1245 / 7739
14
(HPO:0000954) Single transverse palmar crease 162 / 7739
15
(HPO:0000303) Mandibular prognathia 179 / 7739
16
(HPO:0002808) Kyphosis 289 / 7739
17
(HPO:0002650) Scoliosis 705 / 7739
18
(HPO:0000664) Synophrys 112 / 7739
19
(HPO:0001007) Hirsutism 91 / 7739
20
(HPO:0002057) Prominent glabella 8 / 7739
21
(HPO:0000411) Protruding ear 140 / 7739
22
(HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
23
(HPO:0001419) X-linked recessive inheritance 189 / 7739
24
(OMIM) Cerebellar atrophy, mild 4 / 7739
25
(OMIM) Decreased IgA, plasma and secretory 1 / 7739
26
(OMIM) Decreased IgG 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chudley et al. (1999) reported a family in which 3 males spanning 2 generations had a syndromic form of moderate mental retardation with seizures and dysmorphic facial features. Common dysmorphic features included prominent glabella, prognathism, synophrys, and hirsutism; ...