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Articles |
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congenital muscular dystrophy-dystroglycanopathy type A
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congenital muscular alpha-dystroglycanopathy with ..
[+]congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; klissencephaly type 2 with muscular and ocular involvement; MDDGA;
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A congenital muscular dystrophy-dystroglycanopathy.. [+]A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
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congenital myasthenic syndrome
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familial limb-girdle myasthenia;
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A neuromuscular junction disease that is character.. [+]A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
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congenital myasthenic syndrome 10
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CMS Ib; CMS10; CMS1B; congenital myasthenic syndro..
[+]CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; LGM; familial limb-girdle myasthenia; congenital muscular dystrophy merosin-positive;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
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congenital myasthenic syndrome 11
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CMS Ie; CMS11; congenital myasthenic syndrome 11 a..
[+]CMS Ie; CMS11; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency; congenital myasthenic syndrome 1e; CMS1E;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
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congenital myasthenic syndrome 12
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CMS12; congenital myasthenia 12 with tubular aggre..
[+]CMS12; congenital myasthenia 12 with tubular aggregates;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
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congenital myasthenic syndrome 13
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CMSTA2; congenital myasthenic syndrome 13 with tub..
[+]CMSTA2; congenital myasthenic syndrome 13 with tubular aggregates; CMS13; congenital myasthenic syndrome with tubular aggregates 2;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23.
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congenital myasthenic syndrome 14
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CMS14; CMSTA3; congenital myasthenic syndrome 14, ..
[+]CMS14; CMSTA3; congenital myasthenic syndrome 14, with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 3;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
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congenital myasthenic syndrome 15
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CMS15; congenital myasthenic syndrome 15 without t..
[+]CMS15; congenital myasthenic syndrome 15 without tubular aggregates;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
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congenital myasthenic syndrome 16
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CMS16; congenital myasthenic syndrome acetazolamid..
[+]CMS16; congenital myasthenic syndrome acetazolamide-responsive;
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A congenital myasthenic syndrome that has_material.. [+]A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23
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congenital myasthenic syndrome 17
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CMS17;
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A congenital myasthenic syndrome that has_material.. [+]A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11.
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congenital myasthenic syndrome 18
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CMS18;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
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congenital myasthenic syndrome 19
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CMS19;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
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congenital myasthenic syndrome 1A
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CMS IIa; CMS1A; CMS2A; congenital myasthenic syndr..
[+]CMS IIa; CMS1A; CMS2A; congenital myasthenic syndrome 1A, slow-channel; congenital myasthenic syndrome type IIa;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
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congenital myasthenic syndrome 1B
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CMS1B; congenital myasthenic syndrome 1B, fast-cha..
[+]CMS1B; congenital myasthenic syndrome 1B, fast-channel;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
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congenital myasthenic syndrome 20
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CMS20; congenital myasthenic syndrome 20 presynapt..
[+]CMS20; congenital myasthenic syndrome 20 presynaptic;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
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congenital myasthenic syndrome 21
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CMS21; congenital myasthenic syndrome 21, presynap..
[+]CMS21; congenital myasthenic syndrome 21, presynaptic;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.
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congenital myasthenic syndrome 2A
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congenital myasthenic syndrome 2A slow-channel; CM..
[+]congenital myasthenic syndrome 2A slow-channel; CMS2A;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
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congenital myasthenic syndrome 2C
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CMS2C; congenital myasthenic syndrome 2C associate..
[+]CMS2C; congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
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congenital myasthenic syndrome 3A
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CMS3A; congenital myasthenic syndrome 3A, slow-cha..
[+]CMS3A; congenital myasthenic syndrome 3A, slow-channel;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 3B
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CMS3B; congenital myasthenic syndrome 3B, fast-cha..
[+]CMS3B; congenital myasthenic syndrome 3B, fast-channel;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 3C
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congenital myasthenic syndrome 3C associated with ..
[+]congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
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congenital myasthenic syndrome 4A
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CMS Ia1; CMS1A1; congenital myasthenic syndrome 4A..
[+]CMS Ia1; CMS1A1; congenital myasthenic syndrome 4A slow-channel; congenital myasthenic syndrometype Ia1; CMS4A;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 4B
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CMS4B; congenital myasthenic syndrome 4B fast-chan..
[+]CMS4B; congenital myasthenic syndrome 4B fast-channel;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 4C
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CMS Id; CMS4C; congenital myasthenic syndrome 4C a..
[+]CMS Id; CMS4C; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; familial infantile myasthenia 1; FIM1; CMS1D; congenital myasthenic syndrome type Id;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
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congenital myasthenic syndrome 5
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CMS Ic; CMS5; congenital myasthenic syndrome type ..
[+]CMS Ic; CMS5; congenital myasthenic syndrome type Ic; EAD; end plate acetylcholinesterase deficiency; congenital myasthenic syndrome Engel type; Engel congenital myasthenic syndrome;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25.
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congenital myasthenic syndrome 6
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CMS Ia2; CMS6; CMSEA; congenital myasthenic syndro..
[+]CMS Ia2; CMS6; CMSEA; congenital myasthenic syndrome type Ia2; congenital presynaptic myasthenic syndrome associated with episodic apnea; familial infantile myasthenia; FIM; FIMG2; CMS1A2; congenital myasthenic syndrome 6, presynaptic; familial infantile myasthenia gravis 2;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
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congenital myasthenic syndrome 7
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CMS7; congenital myasthenic syndrome 7 presynaptic..
[+]CMS7; congenital myasthenic syndrome 7 presynaptic;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
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congenital myasthenic syndrome 8
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CMS8; congenital myasthenic syndrome 8 with pre- a..
[+]CMS8; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.
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congenital myasthenic syndrome 9
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congenital myasthenic syndrome 9, associated with ..
[+]congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency; CMS9;
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A congenital myasthenic syndrome characterized by .. [+]A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
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congenital myopathy
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A myopathy that is characterized by hypotonia and .. [+]A myopathy that is characterized by hypotonia and weakness, usually present from birth.
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congenital myopathy 10B
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A congenital myopathy that is characterized by inf.. [+]A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.
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congenital myopathy 14
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A congenital myopathy that is characterized by ons.. [+]A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
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congenital myopathy 15
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A congenital myopathy that is characterized by sym.. [+]A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding.
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congenital myopathy 16
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A congenital myopathy that is characterized by ons.. [+]A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs.
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congenital myopathy 17
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A congenital myopathy that is characterized by hyp.. [+]A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.
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congenital myopathy 18
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A congenital myopathy that is characterized by the.. [+]A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
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congenital myopathy 19
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A congenital myopathy that is characterized by inf.. [+]A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36.
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congenital myopathy 1A
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central core disease (disorder); central core dise..
[+]central core disease (disorder); central core disease; central core myopathy;
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A congenital myopathy that is characterized by mus.. [+]A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.
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congenital myopathy 1B
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multiminicore disease;
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A congenital myopathy that is characterized by mul.. [+]A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.
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congenital myopathy 20
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A congenital myopathy that has_material_basis_in h.. [+]A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.
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congenital myopathy 21
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A congenital myopathy that is characterized by dia.. [+]A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.
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congenital myopathy 22A
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A congenital myopathy that is characterized by ons.. [+]A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B.
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congenital myopathy 22B
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A congenital myopathy that is characterized by in .. [+]A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.
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congenital myopathy 2B
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A congenital myopathy that is characterized by sev.. [+]A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
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congenital myopathy 2C
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A congenital myopathy that is characterized by sev.. [+]A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
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congenital myopathy 4A
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CFTD; congenital fiber-type disproportion;
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A congenital myopathy that is characterized by ske.. [+]A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
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congenital myopathy 5
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congenital myopathy-5 with cardiomyopathy; Salih m..
[+]congenital myopathy-5 with cardiomyopathy; Salih myopathy;
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A congenital myopathy that is characterized by the.. [+]A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31.
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congenital myopathy 6
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inclusion body myopathy 3; proximal myopathy and o..
[+]inclusion body myopathy 3; proximal myopathy and ophthalmoplegia;
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A congenital myopathy that is characterized by chi.. [+]A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
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congenital myopathy 8
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A congenital myopathy that is characterized by hyp.. [+]A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe.
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congenital myopathy 9A
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A congenital myopathy that is characterized by neo.. [+]A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.
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