Phenotype #0000307974

Individual ID	00416209
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth need for aspiration before spontaneous breathing; language impairment/delay; no autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; restlessness; MRI brain normal; no seizures; hands foetal pads, feet overlap of 2nd digit on 3rd one (present also in the mother); mild pectus excavatum, U- shaped cleft palate, supernumerary central incisors; need for aspiration before spontaneous breathing at birth; strabismus, astigmatism; no hearing problems; cafe-au-lait spot
Inheritance	Familial, autosomal dominant
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Lisa Pavinato
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-24 12:29:18 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD