Global Variome shared LOVD

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Phenotype #0000309957 Individual ID 00418621 Associated disease BBS Phenotype details ocular findings: retinitis pigmentosa: yes; myopia: no; digital anomalies: postaxial polydactyly hands: yes; postaxial polydactyly feet: no; insertional polydactyly: no; brachydactyly: yes; syndactyly: no; weight: <90th centile: yes; neurologic: developmental delay: no; seizures: no; genitalia: hydrometrocolpos: no; vaginal agenesis/transverse membrane: no; urogenital sinus: no; absent uterus: no; micropenis: no; renal anomalies: hydronephrosis: yes; renal cysts: no; renal failure: no; small kidneys: no; other: hypothyroidism: no; nonnoinsulin dependent diabetes mellitus: no; Hirschsprung disease:no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination - 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 2022-10-01 20:41:53 +02:00 (CEST) Date last edited N/A

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