TaoMedAI/RareMedData huggingface dataset:
Gene: TCTN3
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Polymicrogyria (HP:0002126)
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: TCTN3
Phenotype: Apnea (HP:0002104)
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: TCTN3
Phenotype: Apnea (HP:0002104)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Hamartoma (HP:0010566)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Abnormality of neuronal migration (HP:0002269)
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: TCTN3
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Aganglionic megacolon (HP:0002251)
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: TCTN3
Phenotype: Perineal fistula (HP:0004871)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Hypoplasia of olfactory tract (HP:0007036)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Severe short stature (HP:0003510)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Rectal atresia (HP:0025023)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Midline notch of upper alveolar ridge (HP:0009084)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Trident pelvis (HP:0034044)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Nystagmus (HP:0000639)
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: TCTN3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Iris coloboma (HP:0000612)
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: TCTN3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Oculomotor apraxia (HP:0000657)
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: TCTN3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Short stature (HP:0004322)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Short stature (HP:0004322)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: TCTN3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Second trimester onset (HP:0034198)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Aplasia/Hypoplasia of the mandible (HP:0009118)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Aplasia/Hypoplasia of the tibia (HP:0005772)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Biparietal narrowing (HP:0004422)
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: TCTN3
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Short tibia (HP:0005736)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Short nose (HP:0003196)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: TCTN3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Oral synechia (HP:0010285)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Monorchism (HP:0030868)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Mesoaxial polydactyly (HP:0100260)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Short finger (HP:0009381)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Epicanthus (HP:0000286)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Retrognathia (HP:0000278)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Retrognathia (HP:0000278)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Long face (HP:0000276)
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: TCTN3
Phenotype: Long face (HP:0000276)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Hydrocephalus (HP:0000238)
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: TCTN3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: High palate (HP:0000218)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: High palate (HP:0000218)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
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: TCTN3
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
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: TCTN3
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Growth delay (HP:0001510)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Growth delay (HP:0001510)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TCTN3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)