ccdc47 Phenotypes

Phenotypes

XB-GENEPAGE-1003203

Gene Symbol: ccdc47 Gene Name: coiled-coil domain containing 47

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (57 sources): Abnormal corpus callosum morphology, Abnormal pinna morphology, Absent speech, Bilateral coxa valga, Brachycephaly, Bulbous nose, Central sleep apnea, Cerebral atrophy, Cerebral visual impairment, Cholelithiasis, Chronic diarrhea, Coarse facial features, Coarse hair, Curly hair, Decreased body weight, Decreased liver function, Dental crowding, Distal arthrogryposis, Downturned corners of mouth, EEG abnormality, Elevated circulating alkaline phosphatase concentration, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Hepatomegaly, High palate, Hip dislocation, Hip dysplasia, Hypermetropia, Hypertelorism, Hypertrichosis, Hypoplastic nipples, Immunodeficiency, Macroglossia, Microcephaly, Microdontia, Midface retrusion, Narrow chest, Narrow forehead, obsolete Joint laxity, Obstructive sleep apnea, Otitis media, Overlapping toe, Pectus excavatum, Plagiocephaly, Pruritus, Ptosis, Recurrent infections, Scoliosis, Severe global developmental delay, Short foot, Splenomegaly, Steatorrhea, Synophrys, Talipes equinovarus, Widely spaced teeth, Woolly hair [+]
Mouse (3 sources): increased fibroblast apoptosis, neonatal lethality, complete penetrance, prenatal lethality, incomplete penetrance
View all ortholog results at Monarch