ADNP‑related multiple congenital anomalies‑intellectual disability-autism spectrum disorder


Engelsk navn: ADNP syndrome
Engelske synonym: ADNP-related syndromic intellectual disability-autism spectrum disorder,HVDAS,Helsmoortel-Van Der Aa Syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 404448
Klassifiseringsnivå: Disorder
ICD-10: Q87.0

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Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
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