Intellectual deficit, X-linked, Miles-Carpenter type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
MENTAL RETARDATION, X-LINKED, SYNDROMIC 4
MRXS4
MCS
Number of Symptoms 17
OrphanetNr: 85283
OMIM Id: 309605
ICD-10:
UMLs: C1839735
MeSH: C537472
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
3
 (HPO:0000577) Exotropia 43 / 7739
4
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
5
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
8
 (HPO:0002803) Congenital contracture 45 / 7739
9
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
10
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
11
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
12
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
13
 (HPO:0000951) Abnormality of the skin 147 / 7739
14
 (HPO:0003693) Distal amyotrophy 118 / 7739
15
 (OMIM) Low digital arches 1 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
17
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: