Rare Disease Library

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Isolated growth hormone deficiency type IV

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency