Phenotype #0000000688

Individual ID	00001506
Associated disease	CSS
Diagnosis/Initial	-
Diagnosis/Definite	CSS
Phenotype details	brith 40w, weight SD 1; hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); ear abnormality (HP:0000598); hypertrichosis (HP:0000998); pectus excavatum (HP:0000767); small nails 5th only;; ;; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); agenesis corpus callosum (HP:0001274); astigmatism (HP:0000483);
Inheritance	Isolated (sporadic)
Age/Examination	05y (5 years)
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