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 InternationalCreative Commons License
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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.