Phenotype #0000280229

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00386422
Associated disease	skeletal dysplasia
Diagnosis/Initial	achondroplasia
Diagnosis/Definite	ACH
Phenotype details	macrocephaly; rhizomelic members; trident hands; no lordosis; no hydrocephalus; no cloverleaf skull; no bowed femurs
Inheritance	Unknown
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-22 16:36:58 +02:00 (CEST)
Date last edited	N/A

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