TaoMedAI/RareMedData huggingface dataset:
Gene: TCF20
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Frontal bossing (HP:0002007)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Poor coordination (HP:0002370)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Gynecomastia (HP:0000771)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Anxiety (HP:0000739)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Inverted nipples (HP:0003186)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Long face (HP:0000276)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Brachycephaly (HP:0000248)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Obesity (HP:0001513)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: High forehead (HP:0000348)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Sandal gap (HP:0001852)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: TCF20
Phenotype: Myopia (HP:0000545)
Associated disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Gene: MLX
Phenotype: Stroke (HP:0001297)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Seizure (HP:0001250)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Arthritis (HP:0001369)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Malaise (HP:0033834)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Arteritis (HP:0012089)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Vasculitis (HP:0002633)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Absent pulse (HP:0032554)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Carotidynia (HP:6000944)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Asymmetric blood pressure between arms (HP:6000945)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Myalgia (HP:0003326)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Dyspnea (HP:0002094)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Migraine (HP:0002076)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Anorexia (HP:0002039)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Chest pain (HP:0100749)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Gangrene (HP:0100758)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Vertigo (HP:0002321)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Headache (HP:0002315)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Blood pressure substantially higher in legs than arms (HP:0020141)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Fever (HP:0001945)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Anemia (HP:0001903)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Hypertension (HP:0000822)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Arthralgia (HP:0002829)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Fatigue (HP:0012378)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Night sweats (HP:0030166)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Retinopathy (HP:0000488)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Weight loss (HP:0001824)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Visual impairment (HP:0000505)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: MLX
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Takayasu arteritis (ORPHA:3287)
Gene: TCN2
Phenotype: Lethargy (HP:0001254)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Ataxia (HP:0001251)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Diarrhea (HP:0002014)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Vomiting (HP:0002013)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Anemia (HP:0001903)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Irritability (HP:0000737)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Abnormal blood folate concentration (HP:0040087)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCN2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: TRANSCOBALAMIN II DEFICIENCY (OMIM:275350)
Gene: TCN2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Transcobalamin deficiency; Transcobalamin II deficiency; Inherited deficiency of transcobalamin (ORPHA:859)
Gene: TCOF1
Phenotype: Microtia (HP:0008551)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Microtia (HP:0008551)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Squamosal suture synostosis (HP:6000612)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCOF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Abnormal parotid gland morphology (HP:0000197)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCOF1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Wide mouth (HP:0000154)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: TCOF1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Gene: TCOF1
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)