Phenotype #0000325294

Individual ID 00435057
Associated disease NDD
Diagnosis/Initial NDD
Diagnosis/Definite NEDMLOB
Phenotype details see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 2y-small cerebellum, delayed myelination; hypotonia; no seizures; microcephaly; retinal dystrophy; prenatal gestational diabetes, mild intra-uterine growth retardation; no facial dysmorphisms
Inheritance Familial, autosomal recessive
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-05-05 15:10:52 +02:00 (CEST)
Date last edited 2023-12-24 13:40:23 +01:00 (CET)

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