Rare Disease Library

Permanent congenital hypothyroidism

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Progressive encephalomyelitis with rigidity and myoclonus

PERM

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

Bronchiectasis-oligospermia syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Dystonia-parkinsonism-hypermanganesemia syndrome

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

ADK hypermethioninemia · Hypermethioninemia encephalopathy due to ADK deficiency

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Westerhof-Beemer-Cormane syndrome

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

Linear and whorled nevoid hypermelanosis

LWNH

Male infertility due to acephalic spermatozoa

Acephalic spermatozoa syndrome

Male infertility due to globozoospermia

Round-headed sperm syndrome · Male infertility due to round-headed spermatozoa

Male infertility due to gonadal dysgenesis or sperm disorder

Male infertility due to testicular dysgenesis or sperm disorder

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Male infertility due to obstructive azoospermia of genetic origin

Male infertility due to impaired sperm transport of genetic origin

Male infertility due to sperm disorder

Male infertility due to sperm motility disorder

Male infertility due to asthenozoospermia

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Male infertility with spermatogenesis disorder

Male infertility with spermatogenesis disorder due to single gene mutation

Male infertility with teratozoospermia due to single gene mutation

Myotonia permanens

Non-syndromic male infertility due to sperm motility disorder

Non-syndromic male infertility due asthenozoospermia

OBSOLETE: Metastatic spermatocytic seminoma

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

Rare disorder with obstructive azoospermia

Rare disorder due to impaired sperm transport

Rare genetic disorder with obstructive azoospermia

Rare genetic disorder due to impaired sperm transport

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

Spermatocytic seminoma

Bradyopsia

PERRS · Prolonged electroretinal response suppression