TaoMedAI/RareMedData huggingface dataset:
Gene: HCRT
Phenotype: Hallucinations (HP:0000738)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HCRT
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HCRT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Narcolepsy (HP:0030050)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HTT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Bruxism (HP:0003763)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Hypertonia (HP:0001276)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Seizure (HP:0001250)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Seizure (HP:0001250)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Seizure (HP:0001250)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Seizure (HP:0001250)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Ataxia (HP:0001251)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Polyphagia (HP:0002591)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Spasticity (HP:0001257)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Inability to walk (HP:0002540)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Dystonia (HP:0001332)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Dystonia (HP:0001332)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Dystonia (HP:0001332)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Absent speech (HP:0001344)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Tremor (HP:0001337)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Myoclonus (HP:0001336)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Myoclonus (HP:0001336)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Scoliosis (HP:0002650)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Staring gaze (HP:0025401)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Dysphagia (HP:0002015)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Gait ataxia (HP:0002066)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Gait ataxia (HP:0002066)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Rigidity (HP:0002063)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Rigidity (HP:0002063)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Rigidity (HP:0002063)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Chorea (HP:0002072)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Chorea (HP:0002072)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Chorea (HP:0002072)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Babinski sign (HP:0003487)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Broad-based gait (HP:0002136)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Clonus (HP:0002169)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Gliosis (HP:0002171)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Infantile onset (HP:0003593)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Insomnia (HP:0100785)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Developmental regression (HP:0002376)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Memory impairment (HP:0002354)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Small hand (HP:0200055)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Mutism (HP:0002300)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Clumsiness (HP:0002312)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormal libido (HP:0031845)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormally slow thought process (HP:0031843)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Hyperactivity (HP:0000752)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Personality changes (HP:0000751)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Hallucinations (HP:0000738)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Irritability (HP:0000737)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Irritability (HP:0000737)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Anxiety (HP:0000739)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Disinhibition (HP:0000734)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Delusion (HP:0000746)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Apathy (HP:0000741)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Depression (HP:0000716)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Depression (HP:0000716)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Depression (HP:0000716)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Agitation (HP:0000713)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Agitation (HP:0000713)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Dementia (HP:0000726)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Dementia (HP:0000726)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Ankle clonus (HP:0011448)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Abnormal circulating cholesterol concentration (HP:0003107)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Choking episodes (HP:0030842)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Kyphosis (HP:0002808)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Oral motor hypotonia (HP:0030190)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Anger (HP:0031473)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HUNTINGTON DISEASE (OMIM:143100)
Gene: HTT
Phenotype: Short foot (HP:0001773)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HTT
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Weight loss (HP:0001824)
Associated disease: Huntington disease; Huntington chorea (ORPHA:399)
Gene: HTT
Phenotype: Weight loss (HP:0001824)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: JHD; Juvenile Huntington chorea; Juvenile Huntington disease (ORPHA:248111)
Gene: HTT
Phenotype: Myopia (HP:0000545)
Associated disease: LOPES-MACIEL-RODAN SYNDROME (OMIM:617435)
Gene: HDC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Echolalia (HP:0010529)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Phonic tics (HP:0100035)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Motor tics (HP:0100034)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Self-mutilation (HP:0000742)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HDC
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Gene: HELLS
Phenotype: Motor delay (HP:0001270)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Macroglossia (HP:0000158)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Malabsorption (HP:0002024)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Anemia (HP:0001903)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Short stature (HP:0004322)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Epicanthus (HP:0000286)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Epicanthus (HP:0000286)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Abnormal B cell morphology (HP:0002846)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Flat face (HP:0012368)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Low-set ears (HP:0000369)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Micrognathia (HP:0000347)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)