VOICE

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OPITZ-KAVEGGIA SYNDROME, LUJAN-FRYNS SYNDROME, SECKEL SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, PRADER-WILLI SYNDROME, BLOOM SYNDROME, SMITH-MAGENIS SYNDROME, HAMAMY SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, RENPENNING SYNDROME

CHAT, THRA, FLNA, GNRHR, RBBP8, PQBP1, MUSK, NONO, LHB, HSPG2, CHRNE, SMAD4, IRX5, TRH, RAI1, EZH2, NDN, MED12, KMT2A, BLM

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIGEORGE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, DYSTONIA 16, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, WEAVER SYNDROME, ACROMICRIC DYSPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, HAMAMY SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, LARON DWARFISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CORNELIA DE LANGE SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

SHOC2, CUL4B, NEU1, FLNA, PRKRA, IRX5, TFAP2A, IGF2, GHR, ALPL, RBBP8, EDA, PCNT, MYH14, EIF4A3, NIPBL, MED12, FBN1, EZH2, HRAS, NOTCH3, TNNT2, MUSK, TRPV4, SMAD4, HSPG2, KMT2A, TBX1, NONO, PAX8

?DYSTONIA 23, AMYOTROPHIC LATERAL SCLEROSIS 21, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIGEORGE SYNDROME, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TARP SYNDROME, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ?OSTEOGENESIS IMPERFECTA, TYPE X, URBACH-WIETHE DISEASE, VELOCARDIOFACIAL SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, ACROMICRIC DYSPLASIA, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, OPITZ-KAVEGGIA SYNDROME, HYPOPHOSPHATASIA, INFANTILE, PRADER-WILLI SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CORNELIA DE LANGE SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

RBM10, FLNA, CHRNE, TRPV4, KMT2A, TFAP2A, IGF2, P4HB, THRA, ALPL, LAMA3, MATR3, PQBP1, TAF6, CHRNA1, NDN, SERPINH1, MYH14, MEGF10, ITGA3, MED12, PRX, FBN1, TRH, EZH2, CACNA1B, HRAS, NOTCH3, MUSK, XRCC4, SMAD4, MYH3, HSPG2, ECM1, TBX1, SEC24D, PAX8

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOPATHY, MYOFIBRILLAR, 6, WEAVER SYNDROME, PACHYONYCHIA CONGENITA 2, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, PRADER-WILLI SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, MULIBREY NANISM, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, URBACH-WIETHE DISEASE, RENPENNING SYNDROME, ACROMICRIC DYSPLASIA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE X, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, LARON DWARFISM, CORNELIA DE LANGE SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SMITH-MAGENIS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA

PPP1R15B, FLNA, KMT2A, LHB, KRT17, TFAP2A, IGF2, RAI1, ALPL, LAMA3, PQBP1, DNAJB2, TAF6, GHR, NDN, PCNT, NIPBL, LIFR, PRX, ATP5A1, BAG3, TRH, FBN1, EZH2, CHAT, POLD1, SERPINH1, HRAS, NOTCH3, TSHB, MUSK, TRPV4, SMAD4, HSPG2, ECM1, TRIM37, NONO, PAX8

?DYSTONIA 23, AMYOTROPHIC LATERAL SCLEROSIS 21, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIGEORGE SYNDROME, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LATERAL MENINGOCELE SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, URBACH-WIETHE DISEASE, VELOCARDIOFACIAL SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, ACROMICRIC DYSPLASIA, COLE-CARPENTER SYNDROME 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, OPITZ-KAVEGGIA SYNDROME, HYPOPHOSPHATASIA, INFANTILE, PRADER-WILLI SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CORNELIA DE LANGE SYNDROME 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

FLNA, CHRNE, TRPV4, KMT2A, TFAP2A, P4HB, IGF2, THRA, ALPL, LAMA3, MATR3, PQBP1, CHRNA1, NDN, MYH14, MEGF10, ITGA3, MED12, PRX, FBN1, TRH, EZH2, CACNA1B, HRAS, NOTCH3, MUSK, XRCC4, SMAD4, MYH3, HSPG2, ECM1, TBX1, SEC24D, PAX8