Phenotype: Mask-like facies (HP:0000298)
Associated genes and diseases:
gene_symbol: UBE3A
disease_id: ORPHA:238446
disease_name: 15q11q13 microduplication syndrome
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11q13
gene_symbol: FKTN
disease_id: ORPHA:272
disease_name: Congenital muscular dystrophy, Fukuyama type
FCMD
FKTN-related congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: KCNJ6
disease_id: ORPHA:435628
disease_name: Keppen-Lubinsky syndrome
Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
gene_symbol: UBA5
disease_id: OMIM:617132
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44
gene_symbol: ATP6AP2
disease_id: ORPHA:363654
disease_name: X-linked parkinsonism-spasticity syndrome
XPDS
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
gene_symbol: PABPN1
disease_id: OMIM:164300
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: ACTA1
disease_id: OMIM:161800
disease_name: NEMALINE MYOPATHY 3
gene_symbol: ACTA1
disease_id: OMIM:620278
disease_name: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT
gene_symbol: DUX4L1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DNMT3B
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: FRG1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: SMCHD1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DUX4
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: SLC6A8
disease_id: ORPHA:52503
disease_name: X-linked creatine transporter deficiency
Creatine transporter deficiency
SLC6A8 deficiency
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: TRIM32
disease_id: ORPHA:1878
disease_name: TRIM32-related limb-girdle muscular dystrophy R8
Autosomal recessive limb-girdle muscular dystrophy type 2H
LGMD due to TRIM32 deficiency
LGMD type 2H
LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Limb-girdle muscular dystrophy type 2H
Sarcotubular myopathy
TRIM32-related LGMD R8
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: PDGFB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PDGFB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: XPR1
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: XPR1
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PDGFRB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: MYORG
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: SLC20A2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: SLC20A2
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: JAM2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: NAA60
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: CMPK2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PAX6
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: ITPR1
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: ATP13A2
disease_id: OMIM:606693
disease_name: KUFOR-RAKEB SYNDROME
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: PANK2
disease_id: ORPHA:216866
disease_name: Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: ATXN3
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: GBA1
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ADH1C
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: MAPT
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: MT-TT
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: SNCAIP
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: TBP
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: NR4A2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN8OS
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME