X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

Orpha code: 85329OMIM code: 304340

Definicja

A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
85329
Kod OMIM
304340
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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