Global Variome shared LOVD

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Phenotype #0000294040 Individual ID 00377105 Associated disease BDVS Diagnosis/Initial Intellectual disability and obesity Diagnosis/Definite BDVS Phenotype details Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, motor delay HP:0001270, Delayed speech and language development HP:0000750, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Low hanging columella HP:0009765, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347 Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Moritz Hebebrand Database submission license Creative Commons Attribution 4.0 International Created by Moritz Hebebrand Date created 2021-07-04 18:57:10 +02:00 (CEST) Date last edited 2022-01-27 15:33:58 +01:00 (CET)

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