Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features malady

External Ids:

MedGen37 CN234733

MeSH39 D002972

UniProtKB/Swiss-Prot:⁷⁰ Cleft palate, psychomotor retardation, and distinctive facial features: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion.

MalaCards based summary: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features, is also known as cprf An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A).

Description from OMIM:⁵² 616728

Clinical features from OMIM:

616728

Search GEO for disease gene expression data for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features.