Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Også kjent som: CTCF-realted neurodevelopmental disorder
Engelsk navn: CTCF-related neurodevelopmental disorder


Definisjon

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

Fra Orphanet

ORPHA: 363611
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

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