Rare Disease Library

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

Alpha-heavy chain disease

Alpha-HCD · IPSID

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Alpha-mannosidosis, adult form

Lysosomal alpha-D-mannosidase deficiency, adult form

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Alpha-thalassemia

Alpha-thalassemia and related disorders

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

Amish lethal microcephaly

Angel-shaped phalango-epiphyseal dysplasia

ASPED

Ankyloblepharon filiforme adnatum-cleft palate syndrome

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Aughton-Hufnagle syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

Aphalangy-syndactyly-microcephaly syndrome

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

Bronspiegel-Zelnick syndrome

Aprosencephaly

Aprosencephaly cerebellar dysgenesis

Aprosencephaly/atelencephaly spectrum

AP/AT spectum

ARX-related encephalopathy-brain malformation spectrum

ARX-related epileptic encephalopathy

Atelencephaly

Atelencephalic microcephaly

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Houlston-Ironton-Temple syndrome

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome

Autoimmune encephalitis

AE · AIE

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

Autoimmune limbic encephalitis

ALE

Autosomal dominant chorioretinopathy-microcephaly syndrome

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal dominant primary microcephaly

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive hypophosphatemic rickets

ARHR

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Basal encephalocele

Benign cephalic histiocytosis