Phenotype #0000155295

Individual ID	00207518
Associated disease	EIEE
Phenotype details	High anterior hairline, upslanted palpebral fissures, a depressed nasal bridge, short nose with anteverted nares, malar flattening, a long philtrum, a thin vermilion of the lips, down‐turned corners of the mouth, micrognathia, a cleft soft palate, large and uplifted earlobes, an overfolded helix of the left ear, and a short neck. Widely spaced nipples. Severe muscular hypotonia and multiple contractures involving the elbows, wrists, fingers, hips and knees, short limbs, and rocker‐bottom feet. Small cerebellum, white‐matter immaturity, prominent sulci, and small optic nerves. Tonic seizures with ocular deviation. Hepatosplenomegaly and developed sepsis from necrotizing enterocolitis. Echochardiography showed a persistent foramen ovale and mild pulmonary hypertension. ALP level not recorded.
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	EIEE
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Intellectual_dis	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 17:57:16 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD