TaoMedAI/RareMedData huggingface dataset:
Gene: TCTN3
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
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: TCTN3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Posteriorly rotated ears (HP:0000358)
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: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Low-set ears (HP:0000369)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
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: TCTN3
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Micrognathia (HP:0000347)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Micrognathia (HP:0000347)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Micrognathia (HP:0000347)
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: Micromelia (HP:0002983)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Hypertelorism (HP:0000316)
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: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Short philtrum (HP:0000322)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
Phenotype: Abnormal heart morphology (HP:0001627)
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: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Genu varum (HP:0002970)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Conductive hearing impairment (HP:0000405)
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: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
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: TCTN3
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Abnormality of eye movement (HP:0000496)
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 eye movement (HP:0000496)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
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: TCTN3
Phenotype: Broad nasal tip (HP:0000455)
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: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Depressed nasal ridge (HP:0000457)
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 neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Wide nose (HP:0000445)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: JOUBERT SYNDROME 18 (OMIM:614815)
Gene: TCTN3
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: TCTN3
Phenotype: Prominent nasal bridge (HP:0000426)
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: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCTN3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Proptosis (HP:0000520)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
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: TCTN3
Phenotype: Foot polydactyly (HP:0001829)
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: Foot polydactyly (HP:0001829)
Associated disease: OROFACIODIGITAL SYNDROME IV (OMIM:258860)
Gene: TCTN3
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: TCTN3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Hypoplastic toenails (HP:0001800)
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 the ear (HP:0000598)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Absent crus of helix (HP:0011255)
Associated disease: OFD4; Baraitser-Burn syndrome; Mohr-Majewski syndrome; Orofaciodigital syndrome type 4; Oral-facial-digital syndrome type 4 (ORPHA:2753)
Gene: TCTN3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Esotropia (HP:0000565)
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: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCTN3
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TCTN3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIFBP
Phenotype: Tapered finger (HP:0001182)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Seizure (HP:0001250)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypospadias (HP:0000047)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Pachygyria (HP:0001302)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Pachygyria (HP:0001302)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Corneal erosion (HP:0200020)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Small hand (HP:0200055)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Oligodontia (HP:0000677)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Synophrys (HP:0000664)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Short stature (HP:0004322)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Sparse hair (HP:0008070)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Short philtrum (HP:0000322)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Pointed chin (HP:0000307)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Macrotia (HP:0000400)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Megalocornea (HP:0000485)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Short neck (HP:0000470)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Increased femoral anteversion (HP:0012427)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Telecanthus (HP:0000506)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Ptosis (HP:0000508)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Ptosis (HP:0000508)
Associated disease: Goldberg-Shprintzen megacolon syndrome; Megacolon-microcephaly syndrome; GOSHS (ORPHA:66629)
Gene: KIFBP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: KIFBP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Gene: GAPVD1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: GAPVD1
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: GAPVD1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: GAPVD1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)