ABNORMALITY OF THE VOICE, HP:0001608

Associated diseases: CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, BROWN-VIALETTO-VAN LAERE SYNDROME 1, PARAGANGLIOMAS 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PARAGANGLIOMAS 2, DYSTONIA 6, TORSION, COLE-CARPENTER SYNDROME 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, FARBER LIPOGRANULOMATOSIS, 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, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, CEREBROTENDINOUS XANTHOMATOSIS, DIGEORGE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MYOPATHY, SPHEROID BODY, STUTTERING, FAMILIAL PERSISTENT, 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DYSTONIA 27, MULIBREY NANISM, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, VELOCARDIOFACIAL SYNDROME, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, AURICULOCONDYLAR SYNDROME 2, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, ASPARTYLGLUCOSAMINURIA, PRADER-WILLI SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, 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, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, AURICULOCONDYLAR SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?XFE PROGEROID SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, DYSTONIA 25, 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, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, ?DYSTONIA 23, AMYOTROPHIC LATERAL SCLEROSIS 21, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 2, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, MUSCULAR DYSTROPHY, RIGID SPINE, 1, OPITZ GBBB SYNDROME, TYPE II, BRANCHIOOCULOFACIAL SYNDROME, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, ACROMICRIC DYSPLASIA, DYSTONIA 16, DYSTONIA 26, MYOCLONIC, GELEOPHYSIC DYSPLASIA 1, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

Associated genes: SOD1, GNPTAB, PARK7, TSPYL1, PRPH, NR4A2, CYP27A1, RAI1, FTL, ALPL, RBBP8, GNAI3, LRRK2, FAM111A, COLQ, MYH14, EIF4A3, IGHMBP2, FGF20, BAG3, PODXL, CACNA1B, PCNT, MYH3, ECM1, ATP6V0A2, SEC24D, ACTA1, SHOC2, ACAN, SLC26A2, KCTD17, TFAP2A, P4HB, IDS, LMNB1, ATXN8OS, RYR1, ASAH1, SDHC, EDA, TAF6, SNRPN, POC1A, MEGF10, CHRND, SNCAIP, CRLF1, SPECC1L, AP4E1, TSHB, TNNT2, PANK2, ADAMTSL2, KMT2A, UPF3B, TBX1, PAX8, ORC4, MGME1, PRKRA, THAP1, MYOT, SMAD4, SDHD, CHAT, GHR, RIN2, SLC19A2, LAMA3, MATR3, CHRNA1, PQBP1, SMARCAL1, SNRPB, RAPSN, CHRNE, LEMD3, VPS35, NDN, KANSL1, SMS, SRD5A2, PARK2, MED12, FBN1, DCTN1, KRT17, EZH2, POLD1, CTNS, TTN, NOTCH3, MUSK, XRCC4, ADH1C, AMER1, TUBB4A, TTC19, FLNA, DNAJC13, BIN1, MYH7, PINK1, SEPN1, ATXN2, GNAL, TBP, ERCC4, SLC52A3, TRPS1, COL6A3, SERPINH1, COQ9, BLM, NIPBL, GLUD2, C10orf2, GBA, LIFR, GMPPA, CRYAB, NEFH, TRH, AGA, HRAS, POLG, ATXN3, MAPT, MGP, ALDH18A1, HSPG2, SDHAF2, TRIM37, TPM3, PLCB4