Phenotype #0000243372

Individual ID 00324876
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., birth 37w+6 (monozygotic twin), weight -1SD, length -1SD, OFC +0.5SD; weight -1,5SD, length -3SD, OFC +1SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; profound deafness, absent eye contact
Inheritance Isolated (sporadic)
Age/Examination 08y (8 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 19:39:41 +02:00 (CEST)

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