TaoMedAI/RareMedData huggingface dataset:
Gene: GATAD2B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Long fingers (HP:0100807)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Long fingers (HP:0100807)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Wide mouth (HP:0000154)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Wide mouth (HP:0000154)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Floppy infant (HP:0008947)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Long toe (HP:0010511)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Long toe (HP:0010511)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Fine hair (HP:0002213)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Tics (HP:0100033)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Tics (HP:0100033)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Sparse hair (HP:0008070)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: High palate (HP:0000218)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Short philtrum (HP:0000322)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Hyperopic astigmatism (HP:0000484)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Astigmatism (HP:0000483)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Strabismus (HP:0000486)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: MYORG
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Ataxia (HP:0001251)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Slurred speech (HP:0001350)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Dysmetria (HP:0001310)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Dysphagia (HP:0002015)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Migraine (HP:0002076)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Middle age onset (HP:0003596)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Thalamic calcification (HP:0025041)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: MYORG
Phenotype: Brain atrophy (HP:0012444)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: MYORG
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Gene: TBC1D24
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: FIME; Familial infantile myoclonic epilepsy; Familial infantile myoclonus epilepsy (ORPHA:352582)
Gene: TBC1D24
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)