TaoMedAI/RareMedData huggingface dataset:
Gene: TRAF3
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Hypoglycorrhachia (HP:0011972)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Headache (HP:0002315)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 (OMIM:614849)
Gene: TRAF3
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Fever (HP:0001945)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 (OMIM:614849)
Gene: TRAF3
Phenotype: Fatigue (HP:0012378)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 (OMIM:614849)
Gene: TRAF3
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF3
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Herpes simplex neuroinvasion; HSV encephalitis; Herpetic encephalitis; Herpes simplex meningo-encephalitis; Herpes simplex virus encephalitis; HSE; HSVE (ORPHA:1930)
Gene: TRAF6
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Hypodontia (HP:0000668)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Thin skin (HP:0000963)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Sparse hair (HP:0008070)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRAF6
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: TRH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Constipation (HP:0002019)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Short stature (HP:0004322)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Dry skin (HP:0000958)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRH
Phenotype: Hoarse voice (HP:0001609)
Associated disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Gene: TRHR
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Lethargy (HP:0001254)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Lethargy (HP:0001254)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Depression (HP:0000716)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Goiter (HP:0000853)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Dry skin (HP:0000958)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Overweight (HP:0025502)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Growth delay (HP:0001510)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Fatigue (HP:0012378)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Fatigue (HP:0012378)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Gene: TRHR
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Hoarse voice (HP:0001609)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRHR
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: TRH resistance syndrome; Central hypothyroidism due to TRH receptor deficiency; Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
Gene: TRIO
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Tapered finger (HP:0001182)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Brachydactyly (HP:0001156)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Poor speech (HP:0002465)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Seizure (HP:0001250)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Absent speech (HP:0001344)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Tremor (HP:0001337)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Scoliosis (HP:0002650)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Wide mouth (HP:0000154)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Poor suck (HP:0002033)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Dysphagia (HP:0002015)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Midface retrusion (HP:0011800)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Unilateral radial aplasia (HP:0011908)
Associated disease: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (ORPHA:476126)
Gene: TRIO
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)
Gene: TRIO
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY (OMIM:617061)
Gene: TRIO
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY (OMIM:618825)