Phenotype #0000319341

Individual ID	00428436
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SBIDDS
Phenotype details	failure to thrive (HP:0001508); short stature (HP:0004322); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); mouth, downturned corners of (HP:0002714); high palate (HP:0000218); finger, short (HP:0009381);
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-03 19:34:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD