Phenotype #0000024990

Individual ID 00028964
Associated disease MCAHS2;GPIBD4
Phenotype details He had febrile seizures at 8.5 months. He had development delay. Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth and deepened plantar creases. He presented several types of seizures. Atrial septal defect type 2 was seen. Elevated alkaline phosphatase level was noted.
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2015-01-06 23:07:26 +01:00 (CET)
Date last edited 2015-01-06 23:21:44 +01:00 (CET)

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