Search for a rare disease
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.
It has been diagnosed in four unrelated patients.
These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland.
The mode of transmission may be either autosomal recessive or dominant.
Article for general public