Phenotype #0000060919

Individual ID 00081356
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., abnormal gait, renal anomaly, distinctive facial features with hypertelorism, prominent forehead/glabella, broad nasal bridge, downward slanted eyelids, wide spaced incisors or cleft lip/palate, juvenile cataract, sternum abnormality, short stature, overlapping toes; severe global developmental delay (HP:0011344); no speech (HP:0001344)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2016-10-07 12:51:13 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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.