Phenotype #0000000702

Individual ID	00001520
Associated disease	CSS
Diagnosis/Initial	-
Diagnosis/Definite	CSS
Phenotype details	brith 37w, weight SD -0.8; Laryngotracheomalacia,Umbilical hernia,Hyperpigmentation axillae and groins; small teeth; photophobia, dysplastic optic discs; <6m-feeding problems 3y; no seizures (-HP:0001250); severe speech delay (HP:0000750); moderate intellectual disability; repetitive movts, hyperphagia from 5y, very dependent on routine, no sense of danger; no anteverted nares (-HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156);; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal, no agenesis corpus callosum (-HP:0001274);
Inheritance	Isolated (sporadic)
Age/Examination	06y07m (6 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Gijs Santen
Database submission license
Created by	Ivo F.A.C. Fokkema
Date created	2013-06-28 17:52:20 +02:00 (CEST)
Date last edited	2020-07-26 12:38:06 +02:00 (CEST)

Global Variome shared LOVD