Disease #04634 (IMNEPD (multisystem neurologic, endocrine, and pancreatic disease, infantile-onset (IMNEPD)), OMIM:616263)

Official abbreviation IMNEPD
Name multisystem neurologic, endocrine, and pancreatic disease, infantile-onset (IMNEPD)
OMIM ID 616263
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PTRH2
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:23 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00448517 287210 - - F yes Syria Kurdish - - - - IMNEPD Secondary microcephaly, Progressive gait ataxia, Abnormal foot morphology, Intellectual disability, Sensorineural hearing impairment, Neurodevelopmental delay PTRH2 PTRH2 1 1 Andreas Laner
00480054 - - - M likely Spain - - - - - IMNEPD RP, SNHL, hepatomegaly (onset at 18 months), myopathy, hypoglycemia, and mild intellectual disability - YARS 1 1 Tamar Ben-Yosef
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