Phenotype #0000359492

Individual ID 00474699
Associated disease FGLDS1
Phenotype details Delayed speech and language development, Short stature, Microcephaly, Ptosis, Brachydactyly, Toe clinodactyly, Abnormality of the face, Narrow palate, Macrotia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 01y (1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2026-03-24 14:13:18 +01:00 (CET)
Date last edited 2026-03-24 17:29:47 +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.