Phenotype #0000081676

Individual ID 00103738
Associated disease TRPS1
Phenotype details sparse hair (HP:0008070); pear-shaped nose (HP:0000447); long philtrum (HP:0000343); thin vermilion border (HP:0000233); micrognathia (HP:0000347); large prominent ears (HP:0000400); bilateral clinodactyly 3rd & 4th fingers, brachydactyly-E; short big toes; normal calcium homeostasis; delayed bone maturation; no calcification; no intellectual disability; delayed growth; short stature (<3rd centile)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 10y07m (10 years, 7 months)
Age/Diagnosis 11y
Age/Onset 01y
Phenotype/Onset bilateral postaxial polydactyly
Protein -
Owner name Arrate Pereda
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Guiomar Perez de Nanclares
Date created 2017-04-18 11:26:06 +02:00 (CEST)
Date last edited 2025-02-03 10:06:45 +01:00 (CET)

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