TaoMedAI/RareMedData huggingface dataset:
Gene: DYNLT2B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Gene: DYNLT2B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNLT2B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SYT14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: SYT14
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; SCAR11; Autosomal recessive spinocerebellar ataxia type 11 (ORPHA:284271)
Gene: SYT14
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Gene: PTF1A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Aplasia/Hypoplasia of the pancreas (HP:0100800)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Pancreatic aplasia (HP:0100801)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Seizure (HP:0001250)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Joint stiffness (HP:0001387)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Apnea (HP:0002104)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Anemia (HP:0001903)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Cerebellar agenesis (HP:0012642)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Neonatal insulin-dependent diabetes mellitus (HP:0000857)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Death in infancy (HP:0001522)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Short chin (HP:0000331)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Short chin (HP:0000331)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Triangular face (HP:0000325)
Associated disease: Pancreatic and cerebellar agenesis; Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
Gene: PTF1A
Phenotype: Triangular face (HP:0000325)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: PTF1A
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Gene: PTF1A
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Gene: MFSD8
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Middle age onset (HP:0003596)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Blindness (HP:0000618)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Central scotoma (HP:0000603)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: High myopia (HP:0011003)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Retinopathy (HP:0000488)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Late young adult onset (HP:0025710)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Visual impairment (HP:0000505)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Visual loss (HP:0000572)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 7 (OMIM:610951)
Gene: MFSD8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
Gene: MFSD8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFSD8
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM151A
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Dystonia (HP:0001332)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: TMEM151A
Phenotype: Torticollis (HP:0000473)
Associated disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Gene: NUTM1
Phenotype: Neoplasm (HP:0002664)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Oropharyngeal squamous cell carcinoma (HP:0012182)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Pancreatic squamous cell carcinoma (HP:0012142)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Pancreatoblastoma (HP:0100757)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Leukemia (HP:0001909)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Ewing sarcoma (HP:0012254)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: NUTM1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: NUT midline carcinoma; NMC (ORPHA:443167)
Gene: WDR72
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
Gene: WDR72
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
Gene: WDR72
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
Gene: WDR72
Phenotype: Hypomature dental enamel (HP:0011085)
Associated disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
Gene: NALCN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Poor speech (HP:0002465)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Enlarged naris (HP:0009931)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Enlarged naris (HP:0009931)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Hypertonia (HP:0001276)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Motor delay (HP:0001270)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Round ear (HP:0100830)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Seizure (HP:0001250)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Hypotonia (HP:0001252)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Ataxia (HP:0001251)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)