HAREL-YOON SYNDROME (HAYOS)

Question 1

What is  HAREL-YOON SYNDROME (HAYOS)?

Accepted Answer

very rare

autosomal recessive

autosomal dominant

mutation in the ATAD3A gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617183

Question 3

Which enzymes are involved?

Accepted Answer

ATPase family AAA domain-containing protein 3A

Disease	HAREL-YOON SYNDROME (HAYOS)
OMIM	617183 OMIM = Online Mendelian Inheritance of Men
Orphanet	496790
Protein (UniProt)	ATPase family AAA domain-containing protein 3A
Gene locus	1p36.33
ICD
Summary	very rare autosomal recessive autosomal dominant mutation in the ATAD3A gene
Laboratory findings	3-Methylglutaconic acid normal/inc (urine) Cholesterol inc (plasma) L-Lactic acid normal/inc (plasma)
Symptoms	ataxia cardiomyopathy cardiomyopathy, hypertrophic cerebellar atrophy or hypoplasia developmental delay dysmorphism feeding difficulties, poor feeding hypotonia lactic acidosis muscle atrophy neuropathy nystagmus onset, childhood onset, infancy optic atrophy psychomotor retardation scoliosis seizures speech development, delayed, abnormal