Intellectual disability‑facial dysmorphism syndrome due to SETD5 haploinsufficiency


Engelsk navn: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


Definisjon

A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Fra Orphanet

ORPHA: 404440
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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