TaoMedAI/RareMedData huggingface dataset:
Gene: TCTN2
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Broad forehead (HP:0000337)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Short neck (HP:0000470)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: JOUBERT SYNDROME 24 (OMIM:616654)
Gene: TCTN2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Anhydramnios (HP:0025700)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TCTN2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: JOUBERT SYNDROME 24 (OMIM:616654)
Gene: TCTN2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MECKEL SYNDROME, TYPE 8 (OMIM:613885)
Gene: TCTN2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: JOUBERT SYNDROME 24 (OMIM:616654)
Gene: TCTN2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN2
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG13
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Small hand (HP:0200055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Clumsiness (HP:0002312)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Decreased body weight (HP:0004325)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Self-mutilation (HP:0000742)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Autism (HP:0000717)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Abnormal lateral ventricle morphology (HP:0030047)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Long philtrum (HP:0000343)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Short chin (HP:0000331)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Microretrognathia (HP:0000308)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: ALG13
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Congenital disorder of glycosylation type Is; CDG1S; Congenital disorder of glycosylation type 1s; ALG13-CDG; CDG-Is; CDG syndrome type Is (ORPHA:324422)
Gene: ALG13
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36 (OMIM:300884)
Gene: THSD4
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: THSD4
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: THSD4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: THSD4
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: THSD4
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: THSD4
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: THSD4
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Arthritis (HP:0001369)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 12 (OMIM:619825)
Gene: THSD4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: THSD4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: THSD4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: THSD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: THSD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: THSD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: THSD4
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: THSD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: THSD4
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)