| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked muscular dystrophy with limb girdle distribution |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive muscular dystrophy with gene located at 15q |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Hutterite type of muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant muscular dystrophy with limb girdle distribution |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| X-linked muscular dystrophy not predominantly limb girdle (disorder) |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive muscular dystrophy not predominantly limb girdle |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant muscular dystrophy not predominantly limb girdle |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Merosin deficient congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Muscle-eye-brain disease, congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Severe childhood autosomal recessive muscular dystrophy |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Early onset myopathy with fatal cardiomyopathy (disorder) |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Distal muscular dystrophy |
Is a |
False |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular hypertrophy-cerebral syndrome |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Western type of congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Ullrich congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Walker-Warburg congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Eichsfeld type congenital muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy type 1A |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Reunion-Indiana Amish type muscular dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy type 1C is caused by mutations in the gene encoding fukutin-related protein (FKRP) and is a rare autosomal recessive disorder characterized by severe muscular dystrophy presenting at birth or in the first few weeks of life. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital muscular dystrophy type 1D large gene mutation (MDC1D) is an autosomal recessive congenital muscular dystrophy with intellectual disabilities and structural brain abnormalities. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies. Clinical features include severe intellectual disability, hypotonia, developmental delay, contractures, and muscle degeneration. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure, and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers, and cap lesions. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| Congenital myotonic dystrophy |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres. |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
| A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3). |
Is a |
True |
Congenital hereditary muscular dystrophy (disorder) |
Inferred relationship |
Some |
|
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