Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies (SIMHA)

Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies, also known as simha syndrome, is related to mandibuloacral dysplasia with type a lipodystrophy and mandibuloacral dysplasia with type b lipodystrophy. An important gene associated with Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies is ZNF407 (Zinc Finger Protein 407). Related phenotypes are kyphosis and hypotonia