Phenotype #0000325292

Individual ID 00435055
Associated disease NDD
Diagnosis/Initial NDD
Diagnosis/Definite -
Phenotype details see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar progressive hypoplasia; no hypotonia; no seizures; microcephaly; no optic findings; intra-uterine growth retardation; narrow palate, retrognathism, prominent incisors, coarse facies
Inheritance Familial, autosomal recessive
Age/Examination 16y (16 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 N/A

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