Phenotype: Abnormal cry (HP:0025429)
Associated genes and diseases:
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: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:605809
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: RAPSN
disease_id: OMIM:618388
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 2
gene_symbol: RAPSN
disease_id: OMIM:616326
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: CHRND
disease_id: OMIM:616322
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
gene_symbol: LYRM4
disease_id: OMIM:615595
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
gene_symbol: EXOSC9
disease_id: OMIM:618065
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
gene_symbol: CHAT
disease_id: OMIM:254210
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: GGPS1
disease_id: OMIM:619518
disease_name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
gene_symbol: CHRNA1
disease_id: OMIM:608930
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
gene_symbol: OPA1
disease_id: OMIM:616896
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: OMIM:619461
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: COLQ
disease_id: OMIM:603034
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 5
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: HACD1
disease_id: OMIM:619967
disease_name: CONGENITAL MYOPATHY 11
gene_symbol: IGHMBP2
disease_id: OMIM:604320
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
gene_symbol: ASPA
disease_id: ORPHA:314911
disease_name: Severe Canavan disease
Infantile Canavan disease
Neonatal Canavan disease
gene_symbol: CRYAB
disease_id: OMIM:613869
disease_name: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: RYR1
disease_id: ORPHA:324581
disease_name: Benign Samaritan congenital myopathy
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: TPM3
disease_id: OMIM:255310
disease_name: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: TRIP4
disease_id: ORPHA:486815
disease_name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular dystrophy, Davignon-Chauveau type
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: ABAT
disease_id: OMIM:613163
disease_name: GABA-TRANSAMINASE DEFICIENCY
gene_symbol: ATP5F1A
disease_id: OMIM:615228
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: TSPYL1
disease_id: OMIM:608800
disease_name: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p