616263.2

Country

Tunisia

HPO Terms

Neonatal hypotonia; Motor delay; Distal muscle weakness; Ataxia; Sensorimotor neuropathy; Diabetes mellitus; Talipes equinovalgus; Brachycephaly; Facial palsy; Sensorineural hearing impairment; Hepatomegaly; Exocrine pancreatic insufficiency; Hyperechogenic pancreas

Back to search Result

Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016077.5:c.254A>C	2		Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1

Download Table

References

Picker-Minh et al. 2016