Phenotype #0000236678

Individual ID 00311431
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details no perinatal history; mild developmental delay/intellectual disability; seizures, enlarged right ventricl, white matter signal alterations; normal stature (SD 0.63), macrocephaly (SD 2); craniofacial dysmorphisms; strabismus, scoliosis; low-set ears, downslanted palpebral fissures, triangular face, delayed speech, delayed language development, intellectual disability
Inheritance Isolated (sporadic)
Age/Examination 14y (14 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 2020-09-25 11:13:06 +02:00 (CEST)
Date last edited 2020-09-25 11:29:05 +02:00 (CEST)

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