Phenotype #0000231396

Individual ID 00305547
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details birth 40+5w, weight 4360 (normal); height 112.4 (normal), weight 16.4 (normal), OFC 47.3 (-2.4 SD); intellectual disability IQ55; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; autism spectrum disorder; facial abnormalities; dysphagia/feeding difficulties; Simian crease; MRI-brain normal, no holoprosencephaly
Inheritance Isolated (sporadic)
Age/Examination 10y (10 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 2020-06-28 10:52:31 +02:00 (CEST)
Date last edited N/A

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