TaoMedAI/RareMedData huggingface dataset:
Gene: POLG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Gene: POLG2
Phenotype: Late young adult onset (HP:0025710)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: POLG2
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Gene: POLG2
Phenotype: Visual loss (HP:0000572)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Gene: POLG2
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: HPS5
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Absent platelet dense granules (HP:0033263)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Infantile onset (HP:0003593)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Strabismus (HP:0000486)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: HPS5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HERMANSKY-PUDLAK SYNDROME 5 (OMIM:614074)
Gene: PDCD10
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Paralysis (HP:0003470)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Hemangioma (HP:0001028)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Headache (HP:0002315)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 3 (OMIM:603285)
Gene: PDCD10
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Focal T2 hypointense brainstem lesion (HP:0012749)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Venous malformation (HP:0012721)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Retinal cavernous hemangioma (HP:0011513)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Retinal vascular malformation (HP:0007797)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Meningioma (HP:0002858)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Hepatic vascular malformations (HP:0006576)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: PDCD10
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Neuroma (HP:0030430)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PDCD10
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: RNF139
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: RNF139
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: MAN1B1
Phenotype: Poor speech (HP:0002465)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Motor delay (HP:0001270)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Seizure (HP:0001250)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Hypotonia (HP:0001252)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Ataxia (HP:0001251)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Resting tremor (HP:0002322)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Abnormal position of hair whorl (HP:0010814)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Underdeveloped nasolabial fold (HP:0010801)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Underdeveloped nasolabial fold (HP:0010801)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Intellectual disability-truncal obesity syndrome; Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; Congenital disorder of glycosylation type II due to MAN1B1 deficiency; Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; MAN1B1-CDG (ORPHA:397941)
Gene: MAN1B1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RAFIQ SYNDROME (OMIM:614202)