Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (CPRF)

Alias:

Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome

Cprf

Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features, is also known as palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A). Affiliated tissues include cerebellum and brain, and related phenotypes are hypotonia and global developmental delay

Related ID：

MALACARDS：CLF048

OMIM：616728

MESH：D002972