TaoMedAI/RareMedData huggingface dataset:
Gene: KIF7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Bilateral cryptorchidism (HP:0008689)
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: Spindle-shaped finger (HP:0031092)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
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: Highly arched eyebrow (HP:0002553)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Tall stature (HP:0000098)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Micropenis (HP:0000054)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Hypospadias (HP:0000047)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Hypospadias (HP:0000047)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Central Y-shaped metacarpal (HP:0006145)
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: Delayed epiphyseal ossification (HP:0002663)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ACS; Acrocallosal syndrome (ORPHA:36)
Gene: KIF7
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Lobulated tongue (HP:0000180)
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: Tongue nodules (HP:0000199)
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: Open mouth (HP:0000194)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
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: Narrow mouth (HP:0000160)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Cleft palate (HP:0000175)
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: Rectovaginal fistula (HP:0000143)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Wide mouth (HP:0000154)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Alveolar process hypoplasia (HP:0006329)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Renal agenesis (HP:0000104)
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: Downturned corners of mouth (HP:0002714)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Anal atresia (HP:0002023)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Frontal bossing (HP:0002007)
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: Hamartoma of tongue (HP:0011802)
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 respiratory system (HP:0002086)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Polydactyly (HP:0010442)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
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: KIF7
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Congenital onset (HP:0003577)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
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: KIF7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Lymphedema (HP:0001004)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Anencephaly (HP:0002323)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Gene: KIF7
Phenotype: Anencephaly (HP:0002323)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Tracheal atresia (HP:0100682)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
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: KIF7
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
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: KIF7
Phenotype: Nystagmus (HP:0000639)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
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: KIF7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Gene: KIF7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Gingival cleft (HP:0030690)
Associated disease: Hydrolethalus (ORPHA:2189)
Gene: KIF7
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Enlarged joints (HP:0003037)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Enlarged joints (HP:0003037)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Gene: KIF7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Gene: KIF7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF7
Phenotype: Fetal onset (HP:0011461)
Associated disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)