Phenotype #0000243364

Individual ID 00324868
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., birth 41w, weight -0.3SD, length -0.3SD; weight +0SD, length +0.6SD, OFC +0.6SD; mild intellectual disability/developemental delay; seizures; motor delay; speech delay; 12-24m-first words; autistic behaviour; stereotypies with echolalia; hyperactivity; anxiety; aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no prominent forehead; no flat nasal bridge; no thin upper lip; hypothyroidy, growth hormone deficiency
Inheritance Isolated (sporadic)
Age/Examination 10y10m (10 years, 10 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 2020-12-24 15:03:09 +01:00 (CET)
Date last edited 2022-09-30 19:37:09 +02:00 (CEST)

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