Global Variome shared LOVD

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Phenotype #0000309129 Individual ID 00417712 Associated disease BBS Phenotype details primary features: rod-cone dystrophy: not ascertained; polydactyly in hands/feet: absent/bilateral postaxial type a; obesity (BMI): overweight (26.3); intellectual disability: absent; renal anomaly: not ascertained; urogenital abnormality: not ascertained; secondary features: enlarged fatty livernot ascertained; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: absent; dental anomalies: absent; developmental delay: absent; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: not ascertained; shortness of breath: absent; diverse symptoms: absent Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-23 11:15:45 +02:00 (CEST) Date last edited N/A

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