orphafolder

| 363623 | Autosomal recessive limb-girdle muscular dystrophy type 2T
| 363649 | Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
| 363654 | X-linked parkinsonism-spasticity syndrome
| 363659 | 20q11.2 microduplication syndrome
| 363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome
| 363540 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema
| 363543 | Autosomal recessive limb-girdle muscular dystrophy type 2R
| 363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion
| 363558 | New-onset refractory status epilepticus
| 363567 | Acute encephalopathy with inflammation-mediated status epilepticus
| 363579 | Extragonadal germ cell tumor
| 363582 | Gonadal germ cell tumor
| 363611 | Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
| 363504 | Germ cell tumor of testis
| 363494 | Non-seminomatous germ cell tumor of testis
| 363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
| 363534 | Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
| 363528 | Intellectual disability-strabismus syndrome
| 363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
| 363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
| 363447 | Autosomal dominant childhood-onset proximal spinal muscular atrophy
| 363478 | Paratesticular adenocarcinoma
| 363472 | Tumor of testis and paratestis
| 363489 | Sex cord-stromal tumor of testis
| 363483 | Testicular teratoma
| 357175 | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
| 357191 | Selection of therapeutic option in non-small cell lung carcinoma
| 357194 | Selection of therapeutic option in colorectal cancer
| 357329 | Combined immunodeficiency due to IL21R deficiency
| 357332 | Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
| 357220 | Primary essential cutis verticis gyrata
| 357225 | Primary non-essential cutis verticis gyrata
| 357237 | Severe combined immunodeficiency due to CARD11 deficiency
| 357506 | Genetic non-syndromic renal or urinary tract malformation
| 357502 | Idiopathic nephrotic syndrome
| 356978 | D,L-2-hydroxyglutaric aciduria
| 356947 | 3q26q27 microdeletion syndrome
| 356961 | SLC35A2-CDG
| 357008 | Atypical hemolytic-uremic syndrome with DGKE deficiency
| 357001 | 19p13.13 microdeletion syndrome
| 356996 | ANK3-related intellectual disability-sleep disturbance syndrome
| 357043 | Amyotrophic lateral sclerosis type 4
| 357034 | Non-hereditary retinoblastoma
| 357027 | Hereditary retinoblastoma
| 357074 | Autosomal recessive cutis laxa type 2, classic type
| 357064 | Autosomal recessive cutis laxa type 2B
| 357058 | Autosomal recessive cutis laxa type 2A
| 357158 | Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
| 357154 | Oral submucous fibrosis
| 357131 | Venous thoracic outlet syndrome
| 357107 | Arterial thoracic outlet syndrome
| 352654 | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
| 352662 | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
| 352657 | Hereditary benign intraepithelial dyskeratosis
| 352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity
| 352636 | Phalangeal microgeodic syndrome
| 352649 | Brain dopamine-serotonin vesicular transport disease
| 352596 | Progressive myoclonic epilepsy with dystonia
| 352629 | 16q24.1 microdeletion syndrome
| 352613 | Male infertility due to NANOS1 mutation
| 352577 | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
| 352587 | Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
| 352582 | Familial infantile myoclonic epilepsy
| 352728 | Disorder of melanin metabolism
| 352731 | Oculocutaneous albinism type 1
| 352734 | Minimal pigment oculocutaneous albinism type 1
| 352737 | Temperature-sensitive oculocutaneous albinism type 1
| 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
| 352687 | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
| 352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 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
| 353277 | Rubinstein-Taybi syndrome due to CREBBP mutations
| 353220 | Familial primary localized cutaneous amyloidosis
| 353217 | Epileptic encephalopathy with global cerebral demyelination
| 352763 | Scleredema
| 352745 | Oculocutaneous albinism type 7
| 352740 | Ocular albinism with congenital sensorineural deafness
| 353356 | Vasoproliferative tumor of the retina
| 353344 | Idiopathic macular telangiectasia type 1
| 353351 | Idiopathic macular telangiectasia type 3
| 353334 | Congenital retinal arteriovenous communication
| 353320 | Pyruvate carboxylase deficiency, benign type
| 353327 | Congenital myasthenic syndromes with glycosylation defect
| 353308 | Pyruvate carboxylase deficiency, infantile type
| 353314 | Pyruvate carboxylase deficiency, severe neonatal type
| 353298 | Roifman syndrome
| 353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
| 353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
| 352298 | Genetic muscular channelopathy
| 352301 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
| 352403 | Spectrin-associated autosomal recessive cerebellar ataxia
| 352333 | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
| 352328 | MEGDEL syndrome
| 352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome
| 352312 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

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