Phenotype #0000326318

Individual ID	00436134
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; prominent occiput (HP:0011220); thick eyebrow (HP:0000574); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); no upper eyelid, fullness of (-HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); short philtrum (HP:0000322); thin upper lip vermilion (HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); synophris; arched eyebrow; wide nasal bridge; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; severe speech delay; mild motor delay; severe learning disabilities; special school; mild intellectual disability (IQ55); no epilepsy; reduced frustration tolerance, short attention span
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 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