Rare Disease Library

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Bonnemann-Meinecke-Reich syndrome

Encephalopathy-intracerebral calcification-retinal degeneration syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Fuhrmann syndrome

Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

Meckel syndrome

Dysencephalia splanchnocystica · Meckel-Gruber syndrome

Meigs syndrome

Demons-Meigs syndrome

MEND syndrome

Male EBP disorder with neurological defects

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Muscular pseudohypertrophy-hypothyroidism syndrome

Kocher-Debré-Semelaigne syndrome · Hoffmann syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome