Phenotype #0000174360

Individual ID 00233938
Associated disease FDH
Phenotype details unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities
Diagnosis/Initial Goltz-Gorlin syndrome
Inheritance Familial
Diagnosis/Definite FDH
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maria Paola Lombardi
Database submission license No license selected
Created by Maria Paola Lombardi
Date created 2010-03-18 15:03:45 +01:00 (CET)
Date last edited 2010-03-24 13:38:50 +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.