Phenotype #0000119746

Individual ID 00147029
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NDAGSCW
Inheritance Isolated (sporadic)
Phenotype details height -2 SD, OFC -4 SD; intellectual disability; no speech; 3y-walk; no epilepsy; hypotonia (HP:0001252); no spasticity (-HP:0001257); no dystonia; reduced vision; developmental hip dysplasia right-sided, non-progressive; tapering fingers; 2 cm anisomelia; adducted thumbs; bilateral club foot; bilateral palsy nervus laryngeus recurrens, Diabetes Mellitus type 1, hydrocephalus
Age/Examination 04y06m (4 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2017-12-29 15:16:49 +01:00 (CET)
Date last edited 2023-11-01 09:20:03 +01:00 (CET)

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