Phenotype: Hyperventilation (HP:0002883)
Associated genes and diseases:
gene_symbol: CIZ1
disease_id: ORPHA:420492
disease_name: Adult-onset cervical dystonia, DYT23 type
DYT23
Dystonia 23
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: GABRB3
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRA1
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: CACNA1H
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: JRK
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: GABRG2
disease_id: ORPHA:64280
disease_name: Childhood absence epilepsy
Pyknolepsy
gene_symbol: FBP1
disease_id: OMIM:229700
disease_name: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: NRXN1
disease_id: OMIM:614325
disease_name: PITT-HOPKINS-LIKE SYNDROME 2
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: CHRNA4
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: CHRNA2
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: CABP4
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: CHRNB2
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: KCNT1
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: CRH
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: DEPDC5
disease_id: ORPHA:98784
disease_name: Autosomal dominant nocturnal frontal lobe epilepsy
ADNFLE
Autosomal dominant sleep-related hypermotor epilepsy
gene_symbol: MT-ND1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND2
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND3
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND4
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TW
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TV
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND5
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TK
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: ARL13B
disease_id: OMIM:612291
disease_name: JOUBERT SYNDROME 8
gene_symbol: UQCRFS1
disease_id: OMIM:618775
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: GABBR2
disease_id: OMIM:617903
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
gene_symbol: HLCS
disease_id: OMIM:253270
disease_name: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
gene_symbol: CPLANE1
disease_id: OMIM:614615
disease_name: JOUBERT SYNDROME 17
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME