Phenotype #0000000721

Individual ID	00001539
Associated disease	CSS
Diagnosis/Initial	-
Diagnosis/Definite	CSS
Phenotype details	brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589);
Inheritance	Isolated (sporadic)
Age/Examination	01y (1 year)
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