TaoMedAI/RareMedData huggingface dataset:
Gene: RFX7
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Polyphagia (HP:0002591)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Few cafe-au-lait spots (HP:0007429)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Small scrotum (HP:0000046)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Dystonia (HP:0001332)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Nail-biting (HP:0012170)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Hair-pulling (HP:0012167)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Asthma (HP:0002099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Broad-based gait (HP:0002136)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Sensory seeking (HP:4000079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Fixated interests (HP:4000070)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Emotional lability (HP:0000712)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Short nose (HP:0003196)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Narrow face (HP:0000275)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Short neck (HP:0000470)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Sandal gap (HP:0001852)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Telecanthus (HP:0000506)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: RFX7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES (OMIM:620330)
Gene: AGXT2
Phenotype: Beta-aminoisobutyric aciduria (HP:0032480)
Associated disease: BETA-AMINOISOBUTYRIC ACIDURIA (OMIM:210100)
Gene: AGXT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BETA-AMINOISOBUTYRIC ACIDURIA (OMIM:210100)
Gene: BCL11B
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Spasticity (HP:0001257)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Decreased naive CD4-positive T cell proportion (HP:0410378)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Absent speech (HP:0001344)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Wormian bones (HP:0002645)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Asthma (HP:0002099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Myopathic facies (HP:0002058)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Myopathic facies (HP:0002058)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Hirsutism (HP:0001007)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Unsteady gait (HP:0002317)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Oligodontia (HP:0000677)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Natal tooth (HP:0000695)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Microdontia (HP:0000691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Hypodontia (HP:0000668)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Cutis laxa (HP:0000973)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Micrognathia (HP:0000347)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Short philtrum (HP:0000322)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Gene: BCL11B
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: BCL11B
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Gene: PINK1
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Dystonia (HP:0001332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Tremor (HP:0001337)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)