TaoMedAI/RareMedData huggingface dataset:
Gene: MAN1B1
Phenotype: Truncal obesity (HP:0001956)
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: Truncal obesity (HP:0001956)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Abnormal facial shape (HP:0001999)
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: Short stature (HP:0004322)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Pectus carinatum (HP:0000768)
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: Aggressive behavior (HP:0000718)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Autism (HP:0000717)
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: Autistic behavior (HP:0000729)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Atypical behavior (HP:0000708)
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: Inverted nipples (HP:0003186)
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: Inverted nipples (HP:0003186)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Long eyebrows (HP:0004523)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Long eyebrows (HP:0004523)
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: Sparse eyebrow (HP:0045075)
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: Sparse eyebrow (HP:0045075)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Cutis laxa (HP:0000973)
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: Cutis laxa (HP:0000973)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Epicanthus (HP:0000286)
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: Macrocephaly (HP:0000256)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Long face (HP:0000276)
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: Long face (HP:0000276)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Malar flattening (HP:0000272)
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: Malar flattening (HP:0000272)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Dolichocephaly (HP:0000268)
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: Dolichocephaly (HP:0000268)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Thin upper lip vermilion (HP:0000219)
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: Thin upper lip vermilion (HP:0000219)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Obesity (HP:0001513)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Low-set ears (HP:0000369)
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: Low-set ears (HP:0000369)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Type II transferrin isoform profile (HP:0012301)
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: Smooth philtrum (HP:0000319)
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: Smooth philtrum (HP:0000319)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Short chin (HP:0000331)
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: Short philtrum (HP:0000322)
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: Short philtrum (HP:0000322)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Pointed chin (HP:0000307)
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: Pointed chin (HP:0000307)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Macrotia (HP:0000400)
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: Macrotia (HP:0000400)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Strabismus (HP:0000486)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Thick vermilion border (HP:0012471)
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: Eclabion (HP:0012472)
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: Downslanted palpebral fissures (HP:0000494)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Short neck (HP:0000470)
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: Short neck (HP:0000470)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Abnormal brain morphology (HP:0012443)
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: Prominent nose (HP:0000448)
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: Prominent nose (HP:0000448)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Wide nose (HP:0000445)
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: Wide nose (HP:0000445)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Wide nasal bridge (HP:0000431)
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: Wide nasal bridge (HP:0000431)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Flat occiput (HP:0005469)
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: Flat occiput (HP:0005469)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Long eyelashes (HP:0000527)
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 eyebrow (HP:0011229)
Associated disease: RAFIQ SYNDROME (OMIM:614202)
Gene: MAN1B1
Phenotype: Hypermetropia (HP:0000540)
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: SLC6A14
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: SLC6A14
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: CHP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Growth delay (HP:0001510)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: CHP1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Gene: SNF8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)