Phenotype #0000321942

Individual ID 00431342
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; short stature; severe developmental delay; 11m-sit; 2y2m-walk; 2.5y-first words (few words); school special education; minimal autonomy; prepubertal; nonspecific dysmorphism; hypotonia; truncal ataxia, gait ataxia, hypotonia; no seizures; MRI brain abnormal; no skeletal anomalies; normal reproductive organs; no ophthalmic anomalies
Inheritance Familial, autosomal recessive
Age/Examination 2y9m (2 years, 9 months)
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 2023-02-09 10:08:23 +01:00 (CET)
Date last edited N/A

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