vitalwiki

ADNP-синдром

ORPHA:404448· ICD-10 Q87.0· Helsmoortel-Van der Aa syndrome

Визначення(English summary)

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.

Поширеність
Unknown
Успадкування
Unknown
Вік початку
Childhood, Infancy