Individuals with ZMAND have global developmental delay, loss of subcutaneous fat, and distinctive facial features including a large nose and large ears.
Additional symptoms may include Intellectual disability, microcephaly, seizures, hypotonia, spasticity, failure-to-thrive, feeding difficulties, deep-set eyes, preauricular skin tags, ogival palate, maxillary prognathism, broad thumbs, large toes, hepatomegaly and heterotopia. Not all individuals with pathogenic variants in the ZNF668gene have these features.
ZNF668