HSD10 mitochondrial disease
A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
17 beta-hydroxysteroid dehydrogenase type 10 deficiency
related
17-beta-hydroxysteroid dehydrogenase 10 deficiency
exact
17-beta-hydroxysteroid dehydrogenase X deficiency
exact
2-methyl-3-hydroxybutyric aciduria
exact
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
exact
2M3HBA
related
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
related
3-hydroxyacyl-CoA dehydrogenase 2 deficiency
exact
3H2MBD deficiency
related
HSD10 deficiency
exact
HSD10 deficiency, atypical type
narrow
HSD10 mitochondrial disease
exact
HSD10 mitochondrial disease, X-linked dominant
exact
HSD10MD
exact
HSD17B10 deficiency
exact
MHBD deficiency
exact
MRXS10
exact
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
narrow
X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome
narrow
chorioathetosis with mental retardation and abnormal behavior
exact
chorioathetosis with mental retardation and abnormal behaviour
exact
hydroxyacyl-CoA dehydrogenase II deficiency
related
mental retardation with chorioathetosis and abnormal behavior
exact
mental retardation with chorioathetosis and abnormal behaviour
exact
mental retardation, X-linked, syndromic 10
exact
mental retardation, X-linked, syndromic type 10
exact
syndromic X-linked intellectual disability type 10
narrow