Phenotype #0000350173

Individual ID 00464111
Associated disease RSTS
Diagnosis/Initial Rubinstein-Taybi syndrome
Diagnosis/Definite RSTS1
Phenotype details microcephaly, downslanted palpebral fissures, highly arched eyebrow, columella below alae nasi, highly arched palate, broad thumbs/halluces/distal phalanx other fingers, intellectual disability, postnatal growth retardation; synophrys, overhanging nasal tip, long eyelashes, strabismus, epicanthal folds, dysplastic ears, auricular pit, short neck, scoliosis, cryptorchidism
Inheritance Unknown
Age/Examination 6.2y
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.