VOICE

Associated diseases: CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, PARAGANGLIOMAS 2, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, OPITZ GBBB SYNDROME, TYPE II, FARBER LIPOGRANULOMATOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, HYPOPHOSPHATASIA, INFANTILE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUCOLIPIDOSIS II ALPHA/BETA, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, LARON DWARFISM, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SMITH-LEMLI-OPITZ SYNDROME, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, DIGEORGE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MYOPATHY, SPHEROID BODY, STUTTERING, FAMILIAL PERSISTENT, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MUCOPOLYSACCHARIDOSIS II, MULIBREY NANISM, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, URBACH-WIETHE DISEASE, VELOCARDIOFACIAL SYNDROME, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ASPARTYLGLUCOSAMINURIA, PRADER-WILLI SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PARAGANGLIOMAS 3, ?OROFACIAL CLEFT 15, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, COLD-INDUCED SWEATING SYNDROME 1, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, PACHYONYCHIA CONGENITA 2, MYASTHENIC SYNDROME, CONGENITAL, 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DYSTONIA 25, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?DYSTONIA 23, AMYOTROPHIC LATERAL SCLEROSIS 21, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, KENNY-CAFFEY SYNDROME, TYPE 2, GABA-TRANSAMINASE DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSTONIA 24, BLOOM SYNDROME, MUSCULAR DYSTROPHY, RIGID SPINE, 1, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, TARP SYNDROME, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OPITZ-KAVEGGIA SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, DYSTONIA 16, DYSTONIA 26, MYOCLONIC, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, GELEOPHYSIC DYSPLASIA 1, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, HAMAMY SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE

Associated genes: NEU1, IRX5, SEC24D, SDHC, RAI1, ANO3, MGME1, RNASEH1, MORC2, FAM111A, COLQ, TSPYL1, EIF4A3, KMT2A, ITGA3, PHF8, GNPTAB, CACNA1B, SERPINH1, MYH3, ECM1, SPECC1L, FBXO7, MUSK, SHOC2, RIN2, TRPV4, SLC26A2, DLX4, KCTD17, MYH14, P4HB, IDS, RNF216, THRA, GNRHR, ABAT, ASAH1, DNAJB2, EDA, TAF6, SNRPN, POC1A, MYO18B, MEGF10, CHRND, CRLF1, PRX, RBM10, PNPLA8, ATP6V0A2, AP4E1, GDAP1, TSHB, TNNT2, NLRP1, PANK2, RBBP8, ADAMTSL2, UPF3B, TBX1, BSCL2, PAX8, ORC4, PPP1R15B, GLB1, PRKRA, MYOT, SMAD4, SDHD, CHAT, GHR, TAZ, LAMA3, MATR3, PQBP1, CHRNA1, SNRPB, RAPSN, SMARCAL1, NDN, KANSL1, SMS, SRD5A2, MED12, ATP5A1, EZH2, POLD1, CTNS, NOTCH3, NONO, XRCC4, TFAP2A, AMER1, SLC5A7, TUBB4A, NBAS, CUL4B, FLNA, CHRNE, LHB, KRT17, SEPN1, DHCR7, IGF2, GNAL, SLC52A3, TRPS1, PCNT, COQ9, BLM, NIPBL, TRIM37, LIFR, GMPPA, ALPL, TRH, FBN1, AGA, HRAS, MGP, BAG3, HSPG2, C10orf2, SDHAF2