TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM237
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: TMEM237
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
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: TMEM237
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Irritability (HP:0000737)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
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: TMEM237
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
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: TMEM237
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
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: TMEM237
Phenotype: Hypertension (HP:0000822)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Epicanthus (HP:0000286)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Long face (HP:0000276)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
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: TMEM237
Phenotype: Malar flattening (HP:0000272)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Growth delay (HP:0001510)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Low-set ears (HP:0000369)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: High forehead (HP:0000348)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Short philtrum (HP:0000322)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
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: TMEM237
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Deeply set eye (HP:0000490)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
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: TMEM237
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
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: TMEM237
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
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: TMEM237
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Coloboma (HP:0000589)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
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: TMEM237
Phenotype: Microphthalmia (HP:0000568)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
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: TMEM237
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RTN4R
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: RTN4R
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: MRPL44
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: MRPL44
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 (OMIM:615395)
Gene: VPS33A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Sepsis (HP:0100806)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Sepsis (HP:0100806)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Motor delay (HP:0001270)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Thick hair (HP:0100874)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Inability to walk (HP:0002540)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Inability to walk (HP:0002540)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Clubbing (HP:0001217)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Death in childhood (HP:0003819)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Proteinuria (HP:0000093)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Proteinuria (HP:0000093)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)