Phenotype #0000326317

Individual ID	00436133
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	onset toddler; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; no uro-renal anomalies; no 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); no depressed nasal bridge (-HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); short philtrum (HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); arched eyebrow; wide nasal bridge; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; preschool; no intellectual disability; no epilepsy; emotional dysregulation, sensory seeking and/or attention seeking behaviors like hitting head, temper tantrums, aggressive behavior with tantrums, high risk for elopement, difficulty with sound pronunciation, possible processing difficulty, challenges with conversation and reciprocal exchanges, fine motor delays
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 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

Global Variome shared LOVD

MAGEL2 (MAGE-like 2)

Phenotype #0000326317