Disease #07058 (NEDFLPH (neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly), OMIM:620075)

Official abbreviation	NEDFLPH
Name	neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly
OMIM ID	620075
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TMEM147
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-12-24 13:43:47 +01:00 (CET)
Date last edited	N/A

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Global Variome shared LOVD