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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

MONDO:0014558

A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.

Also known as: Arboleda-Tham syndrome, KAT6A Syndrome, MRD32, autosomal dominant intellectual disability 32, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, intellectual disability, autosomal dominant type 32, mental retardation, autosomal dominant type 32, autosomal dominant non-syndromic intellectual disability 32

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

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Broader categories

Cardiovascular disorder (969) Disease (618) Heart disorder (273) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Bone disorder (47) Syndromic disease (24)
Trials to join now! 100 Not yet recruiting 46 Not yet finished but already full! 31 Completed 66 Terminated 5
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