Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked Parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes.
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X-linked intellectual disability-psychosis-macroorchidism syndrome
MONDO:0010235
X-linked intellectual disability-plagiocephaly syndrome
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intellectual disability, X-linked 49
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MEHMO syndrome
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syndromic X-linked intellectual disability 7
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syndromic X-linked intellectual disability Shashi type
MONDO:0010277