Disease #06523 (PNRIID (Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development), OMIM:618124)

Official abbreviation PNRIID
Name Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
OMIM ID 618124
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease -
Associated with 1 gene MCM3AP
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

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00466417 - Pending - M - France - - - - - PNRIID Minicore myopathy * Pes valgus * Pes planus * Steppage gait * Flexion contracture of toe * Deviation of toes * Neonatal hypotonia * Global developmental delay * Seizures - MCM3AP 2 1 Camille Verebi
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