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mental retardation, X-linked, syndromic 15
Genetics:
- associated defects in CUL4B
Clinical manifestations:
- significantly below average general intellectual functioning
- impairments in adaptative behavior
- manifested during the developmental period.
- distinguishing manifestations of MRXS15 are
a) relative microcephaly
b) short stature
c) hypertelorism
d) macrostomia
e) patulous lips
f) difficulty in speech
g) micrognathia
h) short thumbs
i) little fingers with adduction
j) hypotonia at age < 10 years, & later hypertonia
k) restlessness
l) seizures.
- obligate carrier females are clinically normal except for rather large hands with deep palmar & finger creases with rhagades
Database Correlations
OMIM 300639
References
- UniProt :accession Q9BZI7
- OMIM :accession 300639