TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM216
Phenotype: Gait disturbance (HP:0001288)
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: TMEM216
Phenotype: Seizure (HP:0001250)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Seizure (HP:0001250)
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: TMEM216
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Hypotonia (HP:0001252)
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: TMEM216
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Ataxia (HP:0001251)
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: TMEM216
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Intellectual disability (HP:0001249)
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: TMEM216
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Global developmental delay (HP:0001263)
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: TMEM216
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
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: TMEM216
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: TMEM216
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Brainstem dysplasia (HP:0002508)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
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: TMEM216
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: TMEM216
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
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: TMEM216
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Scoliosis (HP:0002650)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
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: TMEM216
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: TMEM216
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
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: TMEM216
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Cleft palate (HP:0000175)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
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: TMEM216
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Neonatal breathing dysregulation (HP:0002790)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Tachypnea (HP:0002789)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Nephropathy (HP:0000112)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Renal cyst (HP:0000107)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Renal cyst (HP:0000107)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
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: TMEM216
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
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: TMEM216
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: TMEM216
Phenotype: Encephalocele (HP:0002084)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Encephalocele (HP:0002084)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Encephalocele (HP:0002084)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Polydactyly (HP:0010442)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Apnea (HP:0002104)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Congenital onset (HP:0003577)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
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: TMEM216
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Anencephaly (HP:0002323)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
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: TMEM216
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Nystagmus (HP:0000639)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
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: TMEM216
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)