TaoMedAI/RareMedData huggingface dataset:
Gene: UFC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Vomiting (HP:0002013)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Clonus (HP:0002169)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Large earlobe (HP:0009748)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hypertropia (HP:0025586)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Flat occiput (HP:0005469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Nail pits (HP:0001803)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: UFC1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Gene: LARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Long fingers (HP:0100807)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Seizure (HP:0001250)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Long toe (HP:0010511)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Anemia (HP:0001903)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: LARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 1 (OMIM:615438)
Gene: TMEM138
Phenotype: Hand polydactyly (HP:0001161)
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: TMEM138
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Molar tooth sign on MRI (HP:0002419)
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
Phenotype: Renal cyst (HP:0000107)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Encephalocele (HP:0002084)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
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: TMEM138
Phenotype: Polydactyly (HP:0010442)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
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: TMEM138
Phenotype: Blindness (HP:0000618)
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: TMEM138
Phenotype: Iris coloboma (HP:0000612)
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: TMEM138
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: TMEM138
Phenotype: Autistic behavior (HP:0000729)
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: TMEM138
Phenotype: Atypical behavior (HP:0000708)
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: TMEM138
Phenotype: Biparietal narrowing (HP:0004422)
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: TMEM138
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: TMEM138
Phenotype: Long face (HP:0000276)
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: TMEM138
Phenotype: Hydrocephalus (HP:0000238)
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: TMEM138
Phenotype: Posteriorly rotated ears (HP:0000358)
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: TMEM138
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Strabismus (HP:0000486)
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: TMEM138
Phenotype: Anteverted nares (HP:0000463)
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: TMEM138
Phenotype: Prominent nasal bridge (HP:0000426)
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: TMEM138
Phenotype: Foot polydactyly (HP:0001829)
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: TMEM138
Phenotype: Ptosis (HP:0000508)
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: TMEM138
Phenotype: Visual impairment (HP:0000505)
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: TMEM138
Phenotype: Coloboma (HP:0000589)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Retinal dystrophy (HP:0000556)
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: TMEM138
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 16 (OMIM:614465)
Gene: TMEM138
Phenotype: Chorioretinal coloboma (HP:0000567)
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: TDP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Gene: TDP2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Gene: TDP2
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Gene: TDP2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Gene: TDP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Hypersomnia (HP:0100786)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Gene: TDP2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)