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CTCF-related neurodevelopmental disorder

MONDO:0014213

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.

Also known as: MRD21, intellectual development disorder, autosomal dominant 21, intellectual disability, autosomal dominant 21, intellectual disability, autosomal dominant type 21, intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome, mental retardation, autosomal dominant 21, mental retardation, autosomal dominant type 21

32 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) Human disease (14) Developmental defect during embryogenesis (7) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 14 Not yet recruiting 5 Not yet finished but already full! 3 Completed 10
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