Global Variome shared LOVD

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Phenotype #0000294041 Individual ID 00377106 Associated disease BDVS Diagnosis/Initial Intellectual disability and obesity Diagnosis/Definite BDVS Phenotype details Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Enuresis HP:0000805, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Synophrys HP:0000664, Hypertelorism HP:0000316, Periorbital fullness HP:0000629, Epicanthus HP:0000286, Short palpebral fissures HP:0012745, wide nasal bridge HP:0000431, Low hanging columella HP:0009765, Cupid bow upper lip HP:0002263, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Brachydactyly HP:0001156, Hypoplastic fingernails HP:0001804, Hypoplastic toenails HP:0001792, Fingernail dystrophy HP:0008404, Pes planus HP:0001763 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 19:22:34 +02:00 (CEST) Date last edited 2022-01-27 15:38:11 +01:00 (CET)

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