Phenotype #0000297032

Individual ID	00404440
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 42w length 51 cm (-0.44 SD)birth 42w length 51 cm (-0.44 SD), weight 3.67 kg (-0.24 SD); height 153 cm (-1.03 SD), weight 51.5 kg (+0.16 SD), OFC 54.5 cm (-0.29 SD); walking on toes since age 17 m, at 15 years normal after extensive conservative (orthotics) therapy; severe intellectual disability, speech/language delay: speaks single words at age 16y, can repeat sentences when dictated, not spontaneous, communicates with simple sign language; full lips, small teeth with wide spacing; insatiable, craving for food, food seeking, difficulty chewing; 1 café-au-lait macula; no urogenital anomalies; no skeletal anomalies; no hearing loss; glasses, +1,25; strabism; no recurrent infections; tongue tie; sleeping problems, after menarche only menstruations once a year, cold hands and feet, positive emotional development in teenage years (more interaction, more pleasure in taking part in social activities)
Inheritance	Isolated (sporadic)
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-02 10:20:20 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD