Phenotype #0000087174

Individual ID 00108617
Associated disease CED
Phenotype details Craniosynostosis sagittal (HPO:000442), Craniosynostosis coronal (HPO:000440), Dolichocephaly (HPO: ), Nephronophthisis (HPO:000090), Sate 2 chronic kidney disease (HPO:0012624), short limbs (HPO:0009826), Narrow thorax (HPO:0000774), Brachydactyly (HPO:0001156), Abnormal teeth (HPO:0000164), Everted lower lip (HPO:0000233), Epicanthic folds (HPO:0000286)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 01y (1 year)
Age/Diagnosis 01y06m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Joanna Walczak-Sztulpa
Database submission license No license selected
Created by Joanna Walczak-Sztulpa
Date created 2017-07-31 12:40:02 +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.