Phenotype #0000270787

Individual ID 00375573
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; eyelid hooding, long philtrum; hypotonia; single febrile seizure; no spasticity; autism spectrum disorder, self-stimulatory, self-injurious behavior; esotropia, anisometropia, amblyopia; normal ears; normal bones; no vertebral anomalies; mild 5th finger clinodactyly, flat feet
Inheritance Isolated (sporadic)
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-11 18:02:38 +02:00 (CEST)
Date last edited N/A

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