Global Variome shared LOVD

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Phenotype #0000304537 Individual ID 00412542 Associated disease - Phenotype details occipitofrontal circumference: 51 cm; no microcephalic features ; height: 4 feet; body mass index: 30.5 (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: high (abnormal triglyceride); normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of both feet and hands; syndactyly: no; no dental anomalies; retinitis pigmentosa: yes; eye sight: weak; 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 11y (11 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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