Phenotype #0000243371

Individual ID 00324875
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., birth 41w, length +0.2SD; weight -0.2SD, length -3.1SD, OFC +1.2SD; moderate intellectual disability/developemental delay; hypotonia; seizures; motor delay; 24m-walk; speech delay; 42m-first words; autistic behaviour; hyperactivity; aggressiveness; no feeding difficulties; sleeping disturbance; almond eyes; hyperlordosis; supernumary nipple, strabismus; MRI corpus callosum agenesis, colpocephaly
Inheritance Isolated (sporadic)
Age/Examination 12y (12 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 2020-12-24 15:03:09 +01:00 (CET)
Date last edited 2022-09-30 19:31:55 +02:00 (CEST)

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