Phenotype: Disturbance of facial expression (HP:0005324)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: ATXN8
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8OS
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: PDE2A
disease_id: OMIM:619150
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
gene_symbol: GATAD2B
disease_id: ORPHA:363686
disease_name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
gene_symbol: PNKD
disease_id: OMIM:118800
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
gene_symbol: LRIG2
disease_id: OMIM:615112
disease_name: UROFACIAL SYNDROME 2
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: ALDH7A1
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: PLPBP
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: MSX1
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: NECTIN1
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: TP63
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: IRF6
disease_id: ORPHA:141291
disease_name: Cleft lip and alveolus
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: PMP22
disease_id: ORPHA:98916
disease_name: Acute inflammatory demyelinating polyradiculoneuropathy
AIDP
Acute idiopathic demyelinating polyneuropathy
Acute inflammatory polyneuropathy
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: KCNQ2
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
gene_symbol: KCNQ3
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED