Rare Disease Library

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

AMME complex · AMME syndrome

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Angelman syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Asherman syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Goodman syndrome

ACPS4 · Acrocephalopolysyndactyly type 4

Hinman syndrome

HAS · HS

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lateral meningocele syndrome

Lehman syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Moore-Federman syndrome

Dwarfism-stiff joint-ocular abnormalities syndrome

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sagliker syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

Triple A syndrome

2A syndrome · 3A syndrome