Phenotype #0000037010

Individual ID 00050398
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details low-set posteriorly rotated ears, abnormality of the pinna, congenital bilateral ptosis, myopia, downturned corners of mouth, curly hair, clinodactyly of the 5th finger, single transverse palmar crease, sparse scalp hair, increased laxity of fingers, global developmental delay, delayed speech and language development
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.