Phenotype #0000350207

Individual ID 00464145
Associated disease RSTS
Diagnosis/Initial Rubinstein-Taybi syndrome
Diagnosis/Definite -
Phenotype details microcephaly, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability; maternal pre-eclampsia, hypertrichosis; strabismus, thin lips, enamel hypoplasia, carious teeth, ventricular noncompaction
Inheritance Unknown
Age/Examination 4.1y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-02-22 11:39:16 +01:00 (CET)
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.