Neurodevelopmental disorder with variable familial hypercholanemia (NEDFHCA) is an autosomal recessive disorder characterized by global developmental delay with motor and speech delay and impaired intellectual development. Affected individuals often have intractable itching (pruritis), sometimes associated with signs of liver dysfunction, including increased serum bile acids (hypercholanemia), hepatomegaly, elevated liver enzymes, and gallstones. Additional features include hypotonia, nonspecific dysmorphic facial features, including jaw/chin defects, and feeding difficulties with poor overall growth. The phenotype is variable: some individuals do not have apparent liver dysfunction, even within the same family (Barish et al., 2024).
See also FHCA1 (607748). [from OMIM]
Also known as: ASTERIX, C19orf56, NEDFHCA, PAT-10, PAT10, PTD008, WDR83OS
Summary: WD repeat domain 83 opposite strand
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