Lista chorób rzadkich*

352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

352403 - Spectrin-associated autosomal recessive cerebellar ataxia

352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome

352456 - Mitochondrial DNA maintenance syndrome

352470 - DNA2-related mitochondrial DNA deletion syndrome

352479 - ISPD-related limb-girdle muscular dystrophy R20

352482 - OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

352487 - Digital anomalies-intellectual disability-short stature syndrome

352490 - Autism spectrum disorder due to AUTS2 deficiency

352497 - OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency

352504 - OBSOLETE: Levodopa-unresponsive juvenile parkinsonism

352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

352540 - Oncogenic osteomalacia

352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

352577 - Bainbridge-Ropers syndrome

352582 - Familial infantile myoclonic epilepsy

352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

352596 - Progressive myoclonic epilepsy with dystonia

352613 - Male infertility due to NANOS1 mutation

352629 - 16q24.1 microdeletion syndrome

352636 - Phalangeal microgeodic syndrome

352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity

352649 - Brain dopamine-serotonin vesicular transport disease

352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

352657 - Hereditary benign intraepithelial dyskeratosis

352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

352675 - X-linked Charcot-Marie-Tooth disease type 6

352682 - Cobblestone lissencephaly without muscular or ocular involvement

352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

352694 - OBSOLETE: Cobblestone lissencephaly type A

352699 - OBSOLETE: Cobblestone lissencephaly type C

352704 - OBSOLETE: Cobblestone lissencephaly type B

352709 - CLN13 disease

352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

352718 - Progressive retinal dystrophy due to retinol transport defect

352723 - Attenuated Chédiak-Higashi syndrome

352728 - Disorder of melanin metabolism

352731 - Oculocutaneous albinism type 1

352734 - Minimal pigment oculocutaneous albinism type 1

352737 - Temperature-sensitive oculocutaneous albinism type 1

352740 - Ocular albinism with congenital sensorineural deafness

352745 - Oculocutaneous albinism type 7

352763 - Scleredema

353217 - Epileptic encephalopathy with global cerebral demyelination

353220 - Familial primary localized cutaneous amyloidosis

353225 - NON RARE IN EUROPE: Primary adult open-angle glaucoma

353253 - Burning mouth syndrome

353277 - Rubinstein-Taybi syndrome due to CREBBP mutations

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