Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. However, some patients may not display all features (summary by {6:Picker-Minh et al., 2016}, {7:Sharkia et al., 2017}). Genetic Heterogeneity of Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease See also IMNEPD2 ({619418}), caused by mutation in the YARS1 gene ({603623}) on chromosome 1p35.

Mutations in PTRH2 gene are the cause of infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD).  This gene plays an important role in regulating cell survival and death; by an integrin-signaling pathway for cells attached or lost their attachment to the extracellular matrix (ECM).  It interacts with transcriptional regulator amino-terminal enhancer of split (AES) to promote apoptosis in a process called anoikos.