Phenotype #0000174277

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00233855
Associated disease	FDH
Phenotype details	developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252);
Diagnosis/Initial	Goltz-Gorlin syndrome
Inheritance	Isolated (sporadic)
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	2010-03-23 00:26:39 +01:00 (CET)

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