Additional Disease Briefs

asphyxiating thoracic dystrophy 4

Also known as: ATD4, SRTD4, asphyxiating thoracic dystrophy 4, asphyxiating thoracic dystrophy type 4, short-rib thoracic dysplasia 4 with or without polydactyly

asphyxiating thoracic dystrophy 5

Also known as: ATD5, Jeune syndrome caused by mutation in WDR19, SRTD5, WDR19 Jeune syndrome, asphyxiating thoracic dystrophy 5, asphyxiating thoracic dystrophy type 5, short-rib thoracic dysplasia 5 with or without polydactyly

Astley-Kendall dysplasia

Also known as: Astley-Kendall syndrome, short limbed dwarfism with extensive stippling

Astrakhan spotted fever

astroblastoma

Also known as: AstB, astroblastoma, astroblastoma (morphologic abnormality), cerebral astroblastoma

ataxia – deafness – intellectual disability syndrome

Also known as: Adr syndrome, Reardon Wilson Cavanagh syndrome, Reardon-Baraitser syndrome, ataxia, hearing loss, and intellectual disability, ataxia, hearing loss, and mental retardation, ataxia-deafness-retardation syndrome, ataxia-hearing loss-intellectual disability syndrome, familial ataxia, deafness, and developmental delayAdr syndrome, Reardon Wilson Cavanagh syndrome, Reardon-Baraitser syndrome, ataxia, hearing loss, and intellectual disability, ataxia, hearing loss, and mental retardation, ataxia-deafness-retardation syndrome, ataxia-hearing loss-intellectual disability syndrome, familial ataxia, deafness, and developmental delay

ataxia – intellectual disability – oculomotor apraxia – cerebellar cysts syndrome

Also known as: PORETTI-Boltshauser syndrome, PTBHS, Poretti-Boltshauser syndrome, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndromePORETTI-Boltshauser syndrome, PTBHS, Poretti-Boltshauser syndrome, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

ataxia – oculomotor apraxia type 4

Also known as: AOA4, PNKP oculomotor apraxia or related oculomotor disease, ataxia - oculomotor apraxia type 4, ataxia-oculomotor apraxia 4, ataxia-oculomotor apraxia-4, oculomotor apraxia or related oculomotor disease caused by mutation in PNKPAOA4, PNKP oculomotor apraxia or related oculomotor disease, ataxia - oculomotor apraxia type 4, ataxia-oculomotor apraxia 4, ataxia-oculomotor apraxia-4, oculomotor apraxia or related oculomotor disease caused by mutation in PNKP

ataxia – telangiectasia variant

Also known as: v-ATv-AT

ataxia – deafness – intellectual disability syndrome

Also known as: Adr syndrome, Reardon Wilson Cavanagh syndrome, Reardon-Baraitser syndrome, ataxia, hearing loss, and intellectual disability, ataxia, hearing loss, and mental retardation, ataxia-deafness-retardation syndrome, ataxia-hearing loss-intellectual disability syndrome, familial ataxia, deafness, and developmental delay