Phenotype #0000357574

Individual ID	00472779
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MRD26
Phenotype details	see paper; ..., no microcephaly; feeding difficulties (infancy); intellectual disability; developmental delay; speech-language disability; motor delay; autistic features; hypotonia; no epilepsy; spasticity; behavioral issues; MRI brain normal; no down slanting palpebral fissures; no short palpebral fissures; no telecanthus; no strabismus; no synophrys; horizontal eyebrows (mild) or low-set; thick eyebrows; no eyebrows sparse (total or partly); no wide (broad) nasal bridge; no anteverted nares; low hanging columella; short philtrum; no narrow (small) mouth; thick vermillion upper or lower lip (thick lips); small jaw; no ear malformation or low-set ears; overhanging nasal tip; normal terminal phalanges (thumbs/halluces); no kyphosis/scoliosis; tight heel cords; normal hallux; mild contractures elbows/ankles.
Inheritance	Isolated (sporadic)
Age/Examination	11y3m (11 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-27 17:23:00 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD