Phenotype #0000204153

Individual ID 00266384
Associated disease ?
Diagnosis/Initial MEDNIK-like syndrome
Diagnosis/Definite -
Phenotype details intellectual disability; global developmental delay; no enteropathy; deafness; no neuropathy; ichthyosis; palmoplantar keratoderma; erythroderma; no hepatopathy; sparse hair; nerve conduction study unremarkable
Inheritance Familial, autosomal recessive
Age/Examination 4y6m (4 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-10-25 11:59:49 +02:00 (CEST)
Date last edited N/A

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