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

Orpha code: 85329OMIM code: 304340

Definition

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
Classification

Malformation syndrome

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

No additional description.

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