Phenotype #0000037268

Individual ID 00050656
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details abnormality of the hypothalamus-pituitary axis, intellectual disability moderate, generalized seizures, frontal upsweep of hair, abnormality of the eyebrow, low hanging columella, broad distal phalanx of finger, prominent fingertip pads, generalized hirsutism, prominent nipples, small hallux
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited N/A

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.