Phenotype #0000326325

Individual ID	00436141
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; microcephaly; no uro-renal anomalies; prominent occiput (HP:0011220); no thick eyebrow (-HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); anteverted nares (HP:0000463); thick ala nasi (HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no abnormality outer ear (-HP:0000356); prominent glabella; neonatal hypotonia; no feeding difficulties infancy; moderate speech delay; moderate motor delay; moderate-severe learning disabilities; special education program; moderate-severe intellectual disability; no epilepsy; delayed speech, behavioral difficulties (tantrums)
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-16 11:42:32 +02:00 (CEST)
Date last edited	N/A