Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304539 Individual ID 00412544 Associated disease - Phenotype details occipitofrontal circumference: 51 cm; no microcephalic features ; height: 3 feet 10 inches; body mass index: 26.9 (obese); no involvement of environmental factors; behavioral expression: hyperactive; communication ability: normal; growth condition: normal; no epileptic shock; wide gait; no attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): normal; lipid profile: normal; normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of both feet and hands; syndactyly: no; no dental anomalies; retinitis pigmentosa: no; eye sight: normal; no nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status: Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-30 13:40:52 +02:00 (CEST) Date last edited N/A

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