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Cornelia de Lange syndrome

MONDO:0016033

A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.

Also known as: Brachmann-de Lange syndrome, Cornelia de Lange syndrome, CDLS

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

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Sub-types

Cornelia de Lange syndrome 1 (1) Cornelia de Lange syndrome 2 (0) Cornelia de Lange syndrome 3 (0) Cornelia de Lange syndrome 4 (0) Cornelia de Lange syndrome 5 (0) Cornelia de Lange syndrome 6 (0)

Broader categories

Disease (680) Hereditary disease (176) Syndromic disease (25) Human disease (14) Developmental defect during embryogenesis (8) Congenital limb malformation (3) Disease of genetic or genomic mechanism (2) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Disease by body system or component (0)
Trials to join now! 3 Not yet recruiting 1 Completed 2
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