TaoMedAI/RareMedData huggingface dataset:
Gene: KIF7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
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: KIF7
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Short nose (HP:0003196)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Prominent palatine ridges (HP:0010291)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
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: KIF7
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
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: KIF7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
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: KIF7
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
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: KIF7
Phenotype: Malar flattening (HP:0000272)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Prominent occiput (HP:0000269)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Prominent occiput (HP:0000269)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Pulmonary valve defects (HP:0005148)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Arthralgia (HP:0002829)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Clinodactyly (HP:0030084)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
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: KIF7
Phenotype: High palate (HP:0000218)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Genu valgum (HP:0002857)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Triangular mouth (HP:0000207)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Triangular mouth (HP:0000207)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Triangular mouth (HP:0000207)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
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: KIF7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Growth delay (HP:0001510)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Low-set ears (HP:0000369)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Sloping forehead (HP:0000340)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Long philtrum (HP:0000343)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Broad forehead (HP:0000337)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Micrognathia (HP:0000347)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
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: KIF7
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Micromelia (HP:0002983)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
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: KIF7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Short philtrum (HP:0000322)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
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: KIF7
Phenotype: Premature birth (HP:0001622)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Microretrognathia (HP:0000308)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
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: KIF7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Strabismus (HP:0000486)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Brain atrophy (HP:0012444)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
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: KIF7
Phenotype: Short neck (HP:0000470)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
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: KIF7
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
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: KIF7
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Coloboma (HP:0000589)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
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: KIF7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZNF699
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal renal medulla morphology (HP:0100957)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Syndactyly (HP:0001159)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Echogenic fetal bowel (HP:0010943)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Cholestasis (HP:0001396)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Chordee (HP:0000041)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypospadias (HP:0000047)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)