Disease #07104 (AAAS2 (achalasia-addisonianism-alacrimia syndrome, type 2))

Official abbreviation	AAAS2
Name	achalasia-addisonianism-alacrimia syndrome, type 2
OMIM ID	-
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TMEM48
Associated tissues	-
Disease features	no adrenal insufficiency, dysphagia/achalasia, polyneuropathy, hyporeflexia, developmental delay, alacrima, no postural hypotension, no sexual dysfunction
Remarks	-
Date created	2024-09-28 14:39:38 +02:00 (CEST)
Date last edited	2024-09-28 14:41:26 +02:00 (CEST)

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Global Variome shared LOVD