Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 85329
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[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:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
2
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
3
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
7
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
8
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
9
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
10
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
11
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
12
 (HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
13
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
14
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: