Rare Disease Library

OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome

OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Beckwith-Wiedemann syndrome

BWS · Exomphalos-macroglossia-gigantism syndrome

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

OBSOLETE: AymÚ-Gripp syndrome

OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

OBSOLETE: Cranioacrofacial syndrome

OBSOLETE: Grosse syndrome

OBSOLETE: Craniosynostosis-fibular aplasia syndrome

OBSOLETE: Lowry syndrome

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome

OBSOLETE: HIPO syndrome

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

OBSOLETE: Lymphedema-cleft palate syndrome

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

OBSOLETE: Mickleson syndrome

OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome

OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome · OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Behrens-Baumann-Vogel syndrome · OBSOLETE: Microphthalmia-optic nerve aplasia syndrome

OBSOLETE: Oculocerebroosseous syndrome

OBSOLETE: Plum syndrome

OBSOLETE: Orofaciodigital syndrome type 10

OBSOLETE: Orofaciodigital syndrome with fibular aplasia · OBSOLETE: OFD10

OBSOLETE: Orofaciodigital syndrome type 13

OBSOLETE: Degner syndrome · OBSOLETE: Oral-facial-digital syndrome type 13

OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

OBSOLETE: Heide syndrome

OBSOLETE: Pilotto syndrome

OBSOLETE: Sakati-Nyhan syndrome

OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome

OBSOLETE: Short stature-microcephaly-heart defect syndrome

OBSOLETE: D'Ercole syndrome

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

OBSOLETE: Syndromic lymphedema

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome