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12 associated genes
600 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Kallmann syndrome
Precursor B-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Normosmic congenital hypogonadotropic hypogonadism
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Li-Fraumeni syndrome
Adrenocortical carcinoma
Papilloma of choroid plexus
Isolated brachycephaly
Neurofibromatosis type 3
Saethre-Chotzen syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Familial partial lipodystrophy associated with PPARG mutations
Hartsfield-Bixler-Demyer syndrome
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Isolated trigonocephaly
Lacrimo-auriculo-dento-digital syndrome
Maffucci syndrome
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Muenke syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Amyotrophic lateral sclerosis
Hereditary breast and ovarian cancer syndrome
Blackfan-Diamond anemia
Precursor T-cell acute lymphoblastic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Acute promyelocytic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Estrogen resistance syndrome
X-linked non-syndromic intellectual deficit
Papillary or follicular thyroid carcinoma
Chronic mucocutaneous candidiasis
46,XY partial gonadal dysgenesis
Distal 22q11.2 microdeletion syndrome
Young adult-onset Parkinsonism
Familial prostate cancer
Coffin-Siris syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Huntington disease
Juvenile Huntington disease
Chronic myeloid leukemia
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant nonsyndromic intellectual deficit
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Multiple endocrine neoplasia type 1
Familial isolated dilated cardiomyopathy
Common variable immunodeficiency
Split hand-split foot malformation
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Familial rhabdoid tumor
Autosomal agammaglobulinemia
SHORT syndrome
3M syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hepatocellular carcinoma, childhood-onset
Noonan syndrome
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Familial gastric cancer
Gastric linitis plastica
Severe combined immunodeficiency due to DNA-PKcs deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
Retinitis pigmentosa
Autosomal dominant hyper-IgE syndrome
Lissencephaly due to TUBA1A mutation
Familial thoracic aortic aneurysm and aortic dissection
Cree leukoencephalopathy
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
2q37 microdeletion syndrome
Osteogenesis imperfecta type 3
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Romano-Ward syndrome
Translocation renal cell carcinoma
Coffin-Lowry syndrome
Baraitser-Winter syndrome
Moyamoya disease
Autoimmune lymphoproliferative syndrome
Juvenile myelomonocytic leukemia
46,XY complete gonadal dysgenesis
COFS syndrome
Squamous cell carcinoma of head and neck
Anaplastic ependymoma
Cerebellar ataxia - hypogonadism
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Angelman syndrome
Familial advanced sleep-phase syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Posterior polar cataract
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Desmoid tumor
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Lethal congenital contracture syndrome type 2
Seckel syndrome
UV-sensitive syndrome
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Melanoma of soft part
Pontocerebellar hypoplasia type 1
Catecholaminergic polymorphic ventricular tachycardia
Familial retinoblastoma
Glucocorticoid resistance
Monosomy 13q14
Unilateral retinoblastoma
17p13.3 microduplication syndrome
Complete androgen insensitivity syndrome
Desmoplastic small round cell tumor
Distal 17p13.3 microdeletion syndrome
Familial hypospadias
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Intellectual deficit, X-linked, Turner type
Kennedy disease
Miller-Dieker syndrome
Partial androgen insensitivity syndrome
Hereditary gingival fibromatosis
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
MODY syndrome
Branchio-oculo-facial syndrome
Growth delay due to insulin-like growth factor I resistance
Syndromic multisystem autoimmune disease due to Itch deficiency
Multiple synostoses syndrome
Distal 16p11.2 microdeletion syndrome
Pachyonychia congenita
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Cornelia de Lange syndrome
Herpetic encephalitis
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
22q11.2 deletion syndrome
Atypical Rett syndrome
Autosomal dominant spastic paraplegia type 13
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Developmental malformations - deafness - dystonia
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Generalized junctional epidermolysis bullosa, non-Herlitz type
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hypomyelination with atrophy of basal ganglia and cerebellum
Isolated ATP synthase deficiency
Localized epidermolysis bullosa simplex
Localized junctional epidermolysis bullosa, non-Herlitz type
MALT lymphoma
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Primary dystonia, DYT4 type
Weaver syndrome
Autosomal recessive systemic lupus erythematosus
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Cardiofaciocutaneous syndrome
Isolated cytochrome C oxidase deficiency
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Inflammatory myofibroblastic tumor
Renal tubular dysgenesis of genetic origin
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Adult hepatocellular carcinoma
Dedifferentiated liposarcoma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Well-differentiated liposarcoma
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Ataxia-telangiectasia variant
Berardinelli-Seip congenital lipodystrophy
Bloom syndrome
Combined cervical dystonia
Familial congenital mirror movements
Heritable pulmonary arterial hypertension
Intellectual deficit, X-linked, Nascimento type
LEOPARD syndrome
Mantle cell lymphoma
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Primary peritoneal carcinoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Spinocerebellar ataxia type 17
Werner syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Capillary malformation - arteriovenous malformation
Dystonia 16
Parkes Weber syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Xeroderma pigmentosum complementation group B
Atypical teratoid tumor
Autosomal recessive cutis laxa type 1
Congenital stromal corneal dystrophy
Familial dysautonomia
Familial multiple meningioma
Isolated scaphocephaly
Lethal arteriopathy syndrome due to FBLN4 deficiency
Spinocerebellar ataxia type 26
Xeroderma pigmentosum complementation group D
Acrokeratosis verruciformis of Hopf
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Darier disease
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Juvenile polyposis of infancy
Kearns-Sayre syndrome
Laron syndrome with immunodeficiency
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial neurogastrointestinal encephalomyopathy
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Denys-Drash syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Follicular lymphoma
Frasier syndrome
Intravascular large B-cell lymphoma
Meacham syndrome
Peutz-Jeghers syndrome
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
Familial papillary renal cell carcinoma
Hyperinsulinism due to HNF4A deficiency
Developmental delay with autism spectrum disorder and gait instability
X-linked dystonia-parkinsonism
Aneurysm - osteoarthritis syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Familial melanoma
Generalized resistance to thyroid hormone
Idiopathic hypereosinophilic syndrome
Infantile myofibromatosis
Lennox-Gastaut syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Myeloid neoplasm associated with PDGFRB rearrangement
Peripheral resistance to thyroid hormones
Selective pituitary resistance to thyroid hormone
Total congenital cataract
Unclassified chronic myeloproliferative disease
Cardiomyopathy - hypotonia - lactic acidosis
Familial hypocalciuric hypercalcemia type 3
Hypotonia with lactic acidemia and hyperammonemia
Joubert syndrome with renal defect
Spinocerebellar ataxia type 10
Ataxia - oculomotor apraxia type 1
Autosomal dominant limb-girdle muscular dystrophy type 1C
Rippling muscle disease
Chuvash erythrocytosis
Von Hippel-Lindau disease
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Combined pituitary hormone deficiencies, genetic forms
Constitutional megaloblastic anemia with severe neurologic disease
Hypocalcemic vitamin D-resistant rickets
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Lethal acantholytic epidermolysis bullosa
Naxos disease
Paternal uniparental disomy of chromosome 6
Transient neonatal diabetes mellitus
Acrodysostosis with multiple hormone resistance
Carney complex
Cerebellar ataxia-deafness-narcolepsy syndrome
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Distal monosomy 12p
Familial atrial myxoma
Fatal infantile hypertonic myofibrillar myopathy
Keratosis follicularis spinulosa decalvans
MEDNIK syndrome
Neuralgic amyotrophy
Prader-Willi syndrome due to translocation
Primary pigmented nodular adrenocortical disease
Purine nucleoside phosphorylase deficiency
Zonular cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal recessive Stickler syndrome
Benign adult familial myoclonic epilepsy
Burkitt lymphoma
Distal myopathy with vocal cord weakness
Endocrine-cerebro-osteodysplasia syndrome
Ethylmalonic encephalopathy
Familial isolated pituitary adenoma
Fibronectin glomerulopathy
Glucose-galactose malabsorption
Glycogen storage disease due to aldolase A deficiency
Hepatoerythropoietic porphyria
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Porphyria cutanea tarda
Triose phosphate-isomerase deficiency
Tyrosinemia type 1
Wilson-Turner syndrome
Wiskott-Aldrich syndrome
X-linked Charcot-Marie-Tooth disease type 6
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
T-B+ severe combined immunodeficiency due to CD45 deficiency
Combined immunodeficiency due to STK4 deficiency
Severe combined immunodeficiency due to LCK deficiency
Alveolar rhabdomyosarcoma
Cabezas syndrome
Hypodontia - dysplasia of nails
Primary CD59 deficiency
Systemic-onset juvenile idiopathic arthritis
X-linked distal arthrogryposis multiplex congenita
17p11.2 microduplication syndrome
17q23.1q23.2 microdeletion syndrome
1p36 deletion syndrome
3-phosphoglycerate dehydrogenase deficiency
5q35 microduplication syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Alpha-thalassemia - myelodysplastic syndrome
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Annular epidermolytic ichthyosis
Ataxia with vitamin E deficiency
Autoimmune lymphoproliferative syndrome with recurrent infections
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant methemoglobinemia
Autosomal dominant severe congenital neutropenia
Autosomal recessive epidermolysis bullosa simplex
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Autosomal recessive spastic paraplegia type 30
Autosomal recessive spastic paraplegia type 45
Beckwith-Wiedemann syndrome due to NSD1 mutation
Behçet disease
CLN2 disease
Carpenter-Waziri syndrome
Char syndrome
Charcot-Marie-Tooth disease type 4G
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Chudley-Lowry-Hoar syndrome
Cleidocranial dysplasia
Combined immunodeficiency due to ZAP70 deficiency
Combined oxidative phosphorylation defect type 4
Congenital communicating hydrocephalus
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Costello syndrome
Craniofrontonasal dysplasia
Craniosynostosis, Boston type
Cytomegalic congenital adrenal hypoplasia
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Ear-patella-short stature syndrome
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with pyloric atresia
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ewing sarcoma
Exfoliative ichthyosis
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
FTH1-related iron overload
Familial amyloidosis, Finnish type
Familial cortical myoclonus
Familial partial lipodystrophy due to AKT2 mutations
Fatal infantile cytochrome C oxidase deficiency
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fried syndrome
Generalized congenital lipodystrophy with myopathy
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Gnathodiaphyseal dysplasia
Goldmann-Favre syndrome
Gray platelet syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Holmes-Gang syndrome
Homozygous familial hypercholesterolemia
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Hypotrichosis simplex
Ichthyosis hystrix of Curth-Macklin
Idiopathic aplastic anemia
Infantile onset spinocerebellar ataxia
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures
Intellectual deficit, X-linked - psychosis - macroorchidism
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Isolated NADH-CoQ reductase deficiency
Juberg-Marsidi syndrome
Junctional epidermolysis bullosa - pyloric atresia
Keratosis palmoplantaris striata
Late-onset junctional epidermolysis bullosa
Left ventricular noncompaction
Leigh syndrome with cardiomyopathy
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
Linear nevus sebaceus syndrome
MACS syndrome
MEGDEL syndrome
Mandibular hypoplasia-deafness-progeroid syndrome
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Methylmalonic acidemia with homocystinuria, type cblX
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Miyoshi myopathy
Monomelic amyotrophy
Mosaic variegated aneuploidy syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Naegeli-Franceschetti-Jadassohn syndrome
Neutral lipid storage myopathy
Non-spherocytic hemolytic anemia due to hexokinase deficiency
PLCG2-associated antibody deficiency and immune dysregulation
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Peters anomaly
Phakomatosis pigmentokeratotica
Primary biliary cirrhosis
Primary ciliary dyskinesia
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Rare isolated myopia
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Rett syndrome
Schimke immuno-osseous dysplasia
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome
Severe neonatal-onset encephalopathy with microcephaly
Shprintzen-Goldberg syndrome
Shwachman-Diamond syndrome
Sjögren-Larsson syndrome
Smith-Fineman-Myers syndrome
Smith-Magenis syndrome
Solitary fibrous tumor
Sotos syndrome
Spinocerebellar ataxia type 18
Spinocerebellar ataxia type 2
Succinyl-CoA:3-ketoacid CoA transferase deficiency
TARP syndrome
Transaldolase deficiency
Trisomy Xq28
Usher syndrome type 1
Uveal coloboma - cleft lip and palate - intellectual deficit
Waardenburg syndrome type 2
West syndrome
X-linked epilepsy - learning disabilities - behavior disorders
X-linked lymphoproliferative disease
Xeroderma pigmentosum complementation group C
Brachydactyly type A2
Brachydactyly type C
CHARGE syndrome
Early-onset autosomal dominant Alzheimer disease
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Focal facial dermal dysplasia
Fraser syndrome
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Omenn syndrome
Zollinger-Ellison syndrome
Autosomal recessive malignant osteopetrosis
MELAS syndrome
Maternally-inherited Leigh syndrome
17q21.31 microdeletion syndrome
Acute necrotizing encephalopathy of childhood
Arthrogryposis - renal dysfunction - cholestasis
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Familial acute necrotizing encephalopathy
Koolen-De Vries syndrome due to a point mutation
Persistent Müllerian duct syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Spinocerebellar ataxia type 12
X-linked Emery-Dreifuss muscular dystrophy
X-linked agammaglobulinemia
X-linked hyper-IgM syndrome
Adult hypophosphatasia
Autosomal recessive lymphoproliferative disease
Childhood-onset hypophosphatasia
Craniolenticulosutural dysplasia
Dehydratase deficiency
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Hemolytic anemia due to adenylate kinase deficiency
Huntington disease-like 1
Infantile hypophosphatasia
Inherited Creutzfeldt-Jakob disease
Navajo neurohepatopathy
Perinatal lethal hypophosphatasia
Prenatal benign hypophosphatasia
Reticular dysgenesis
Temtamy syndrome
(no synonyms)

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.