MCID: CLF048
MIFTS: 21
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Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Categories:
Genetic diseases, Oral diseases, Neuronal diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...
MalaCards integrated aliases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:
Characteristics:OMIM:53
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation three patients have been described (last curated january 2016) HPO:31
cleft palate, psychomotor retardation, and distinctive facial features:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Oral diseases Neuronal diseases |
UniProtKB/Swiss-Prot
:
71
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, and has symptoms including constipation, macrocephaly and frontal bossing. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A).
Description from OMIM:
616728
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:616728Human phenotypes related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:31 (show all 38)
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UniProtKB/Swiss-Prot genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:71
ClinVar genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:6
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Search
GEO
for disease gene expression data for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features.
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