| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
6 |
| Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
5 |
| Osteochondrodysplasia with osteopetrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Osteopetrosis - intermediate type (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of 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. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Osteopetrosis with renal tubular acidosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Atelosteogenese/diastrofisk dysplasi |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
| Scapuloperoneal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalised tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Early onset myopathy with fatal cardiomyopathy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Madelung's deformity |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
| Hereditary progressive muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Craniometadiaphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Facioscapulohumeral muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| 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. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Osteomesopyknose |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Juvenile onset Huntington's disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Benign autosomal dominant osteopetrose |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
| A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
4 |
| Manifesting female carrier of X-linked muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Osteopetrosis |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Hereditary myopathy limited to females |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| A rare fatal inborn error of metabolism disorder with characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Reunion-Indiana Amish type muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia Beighton type (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Ullrich congenital muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb-girdle muscular dystrophy type 1H |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Multiple epiphyseal dysplasia |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Autosomal dominant muscular dystrophy with gene located at 5q31 |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| Muscular dystrophy with predominantly proximal limb girdle distribution |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| X-linked muscular dystrophy with limb girdle distribution |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| X-linked muscular dystrophy with abnormal dystrophin |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Intermediate X-linked muscular dystrophy (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Larsen syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
| A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| X-linked limb girdle muscular dystrophy with normal dystrophin |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Jis muskeldystrofi |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal recessive muscular dystrophy with limb girdle distribution |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
1 |
| Alvorlig autosomal recessiv muskeldystrofi i barnealderen – nordafrikansk type |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
3 |
| Autosomal recessiv muskeldystrofi forårsaget af gen med locus på kromosom 15q |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
1 |
| Langer mesomelic dysplasia syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal dominant muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Western type of congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal dominant limb girdle muscular dystrophy type 1C |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Congenital muscular dystrophy with arthrogryposis multiplex congenita |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Eichsfeld type congenital muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Hutterite type of muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is 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 (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Adult onset autosomal recessive muscular dystrophy with normal dystrophin |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| 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. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
4 |
| Congenital muscular hypertrophy-cerebral syndrome |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
3 |
| Late onset proximal muscular dystrophy with dysarthria |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Muscular dystrophy not predominantly limb girdle in distribution |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| X-linked muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Mesomelic dysplasia (disorder) |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| Benign skapuloperoneal muskeldystrofi med kardiomyopati |
Clinical course |
False |
Progressive |
Inferred relationship |
Some |
2 |
| An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
5 |
| A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Late onset Huntington's disease |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Autosomal recessive muscular dystrophy not predominantly limb girdle |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Scapulohumeral muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
| Benign scapuloperoneal muscular dystrophy |
Clinical course |
True |
Progressive |
Inferred relationship |
Some |
2 |
FHIR