Phenotype #0000325821

Individual ID 00435637
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures; strabismus; no hypotonia; MRI brain abnormal white matter (decreased volume in parietal lobes), possible focal dysgria, hypoplastic anterior temporal lobes, J-shaped sella; narrow fingers, distal camptodactyly, 5th finger clinodactyly, pes planus, bent 3rd toes; prominent maxilla/upper lip; micrognathia; no long ears
Inheritance Isolated (sporadic)
Age/Examination 15y (15 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 2023-08-06 22:51:48 +02:00 (CEST)
Date last edited N/A

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