All individuals with variants in gene MORC2

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00295653 - - - M - - - - - - - ? Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of muscle physiology (HP:0011804); Progressive muscle weakness (HP:0003323); Abnormality of the endocrine system (HP:0000818); Diabetes mellitus (HP:0000819); Hypertension (HP:0000822) 1 1 Andreas Laner
00306917 FamCMT237 PubMed: Sevilla 2016 4-generation family, 7 affected (3F, 4M) F;M - Spain - - - - - CMT see paper; ..., first symptoms childhood/early adulthood, cramps lower limbs, distal lower limb weakness, sensory loss during initial examination, hand weakness appeared after distal lower limbs paresis 1 7 Johan den Dunnen
00306918 FamCMT197 PubMed: Sevilla 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Spain - - - - - CMT see paper; ..., delayed motor milestones 1 1 Johan den Dunnen
00306919 Pat1 PubMed: Ando 2017 - M - Japan - - - - - CMT see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor tongue tremor 1 1 Johan den Dunnen
00306920 Pat2 PubMed: Ando 2017 - M - Japan - - - - - CMT see paper; ..., drop foot; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; decreased deep tendon reflex; intellectual disability; atopic dermatitis 1 1 Johan den Dunnen
00306921 Pat3 PubMed: Ando 2017 - F - Japan - - - - - CMT see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment 1 1 Johan den Dunnen
00306922 Pat4 PubMed: Ando 2017 - F - Japan - - - - - CMT see paper; ..., fatigue; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; no decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor leukoaraiosis 1 1 Johan den Dunnen
00306923 Pat5 PubMed: Ando 2017 - M - Japan - - - - - CMT see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment 1 1 Johan den Dunnen
00306924 Pat6 PubMed: Ando 2017 family M - Japan - - - - - CMT see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; tremor 1 2 Johan den Dunnen
00306925 Pat7 PubMed: Ando 2017 - M - Japan - - - - - CMT see paper; ..., difficulty in run; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; no cognitive impairment; tremor tongue atrophy 1 1 Johan den Dunnen
00306926 Pat8 PubMed: Ando 2017 - M - Japan - - - - - CMT see paper; ..., weakness; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; intellectual disability (IQ47) 1 1 Johan den Dunnen
00306927 Pat9 PubMed: Ando 2017 family M - Japan - - - - - CMT see paper; ..., poor motor performance; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment 1 2 Johan den Dunnen
00306928 Fam3Pat10 PubMed: Ando 2017, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents M - Japan - - - - - CMT see paper; ..., difficulty in running; distal leg atrophy; distal leg weakness; upper extremity involvement; no proximal involvement; no laterality; decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment; atopic dermatitis 1 1 Johan den Dunnen
00306929 Fam2Pat11 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - CMT see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; no upper extremity involvement; no proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; no cognitive impairment 1 1 Johan den Dunnen
00306930 Fam3Pat12 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - CMT see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; proximal involvement; no laterality; no decreased touch; decreased vibration; decreased deep tendon reflex; intellectual disability (IQ65); leukoaraiosis brain atrophy spinal cord atrophy 1 1 Johan den Dunnen
00306931 Fam4Pat13 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - CMT see paper; ..., gait disturbance; distal leg atrophy; distal leg weakness; upper extremity involvement; decreased deep tendon reflex; intellectual disability (IQ76) 1 1 Johan den Dunnen
00306932 - PubMed: Ando 2017 - - - Japan - - - - - CMT - 1 1 Johan den Dunnen
00306933 - PubMed: Ando 2017 - - - Japan - - - - - CMT - 1 1 Johan den Dunnen
00306934 - PubMed: Ando 2017 - - - Japan - - - - - CMT - 1 1 Johan den Dunnen
00306935 FC171 PubMed: Hyun 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - CMT see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, scoliosis, claw hand 1 1 Johan den Dunnen
00306936 FC288 PubMed: Hyun 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Korea - - - - - CMT see paper; ..., general hypotonia, proximal muscle weakness upper limbs, proximal muscle weakness lower limbs, wheelchair dependent, sensory loss, absent deep tendon reflexes, developmental delay, cataract, scoliosis, dysmorphic face, claw hand 1 1 Johan den Dunnen
00306937 FC456 PubMed: Hyun 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - CMT see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, scoliosis, visual evoked potential abnormal, cramps, claw hand, standing on heels 1 1 Johan den Dunnen
00306938 FC664 PubMed: Hyun 2016, PubMed: Sacoto 2020 4-generation family, 1 affected, unaffected parents M - Korea - - - - - CMT see paper; ..., muscle weakness hand, muscle weakness lower limbs, ankle dorsiflexion, sensory loss, absent deep tendon reflexes, hearing loss, neck weakness, cramps, claw hand, not standing on heels 1 1 Johan den Dunnen
00306939 FamCMT438 PubMed: Sevilla 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - Spain - - - - - CMT OFC <third percentile; motor delay; no speech delay; no intellectual disability; hypotonia, weakness, areflexia; sensory motor neuropathy; MRI brain “mild dismaturative features” 1 1 Johan den Dunnen
00306940 Pat1 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -3.41, weight SD -2.95, OFC SD -3.72; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; precocious puberty; high arches, hyperreflexia, spasticity, ataxic and jerking movements of arms and legs, thoracic kyphosis; only walks with a walker; normal electromyogram, normal nerve conduction study; MRI brain abnormal T2 hyperintensity in right cerebral peduncle, cortical atrophy with ventriculomegaly, abnormal signal in right putamen and diffuse, ill-defined white matter hyperintensity 1 1 Johan den Dunnen
00306941 Pat2 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -3.66, weight SD -5.6, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; no facial dysmorphism; no hearing loss; delayed puberty, growth hormone deficiency, hypothyroidism; high arches, toe walking, spasticity, hyperreflexia; MRI brain 14y-normal 1 1 Johan den Dunnen
00306942 Pat3 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -3.13, weight SD -2.36, OFC SD -5.03; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; no hearing loss; vitamin D deficiency; high arches, hyporeflexia in lower extremities; MRI brain severe delay in myelination with T2 hyperintensity in the substantia nigra, mild cerebral atrophy; severe gastresophageal reflux, hyperopia, ptosis, capillary hemangioma 1 1 Johan den Dunnen
00306943 Pat4 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -3.28, weight SD -2.91, OFC SD -0.94; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, severe, hearing aid in one ear and a cochlear implant in the other; precocious puberty, mildly increased prolactin; hyporeflexia, reduced range of motion in large joints, knee contractures, crouched and stiff gait; normal electromyogram, normal nerve conduction study; MRI brain 12y-normal; salt and pepper maculopathy, strabismus, oromotor dyspraxia, constipation, autism 1 1 Johan den Dunnen
00306944 Pat5 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT height SD -2.89, weight SD 0.4, OFC SD -4.02; motor delay; speech delay; severe intellectual disability; no facial dysmorphism; mixed, moderate-profound, hearing aids; no endocrine anomalies; hypotonia, weakness, hyperreflexia; MRI brain ventriculomegaly, supratentorial and infratentorial volume loss with diffusely abnormal white matter and prominent cavitary encephalomalacia in the putamina and caudate heads; retinal dystrophy on ERG, bilateral ptosis, esotropia, epilepsy, gastresophageal reflux, feeding difficulties, laryngomalacia, sialorrhea, history of acute respiratory failure with illness, neutropenia, lactic acidosis 1 1 Johan den Dunnen
00306945 Pat6 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -1.58, weight SD -0.93, OFC SD -1.35; motor delay; speech delay; facial dysmorphism; no hearing loss; no endocrine anomalies; axial hypotonia, appendicular hypertonia (more pronounced in the lower extremities), hyperreflexia and extensor plantar response; MRI brain 10m-normal; non-specific peripheral retinal deposits 1 1 Johan den Dunnen
00306946 Pat7 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -2.32, weight SD -2.58, OFC SD -0.4; motor delay; speech delay; severe intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; hypotonia, decreased muscle bulk, proximal weakness, areflexia, non-ambulatory; sensory motor axonal neuropathy; MRI brain T2 hyperintensities of the central tegmental tract and superior cerebral peduncles, globus palladi, subthalamic nucleus and substantia nigra; unprovoked episodic deterioration in neurologic symptoms, followed by gradual recovery, frequent respiratory infections 1 1 Johan den Dunnen
00306947 Pat8 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -3.34, weight SD -4.08, OFC SD -3.46; motor delay; speech delay; mild/moderate intellectual disability; no facial dysmorphism; no hearing loss; no endocrine anomalies; weakness, decreased muscle bulk, mildly elevated creatine kinase, areflexia, wide based and waddling gait, uses a walker and braces for ambulation, mild kyphosis; axonal motor neuropathy; MRI brain 15m-normal; proximally placed thumbs, hirsutism 1 1 Johan den Dunnen
00306948 Pat9 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -6.61, weight SD -3.9, OFC SD -9.7; motor delay; speech delay; severe intellectual disability; facial dysmorphism; hearing loss, type unknown; hammertoes, spasticity, non-ambulatory; decreased vision, short and broad toes 1 1 Johan den Dunnen
00306949 Pat10 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -2.12, weight SD -0.67, OFC SD -2.24; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; mild diffuse hypotonia, hyporeflexia, possible mild muscle weakness, intention tremor of upper extremities, intermittent exotropia, slow gait with trace circumduction at left hip; 4y-normal electromyogram, normal nerve conduction study; MRI brain lesions of the periaqueductal gray matter, thalami, substantia nigra, and geniculocalcarine tract at 17 months; periaqueductal gray matter lesions had resolved by age 4 years, whereas other lesions remained stable; pectus excavatum, fifth finger clinodactyly, broad great toes, cutis marmorata, 7y-subtle retinal pigmentary changes 1 1 Johan den Dunnen
00306950 Pat11 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -3.69, weight SD -3.32, OFC SD -2.04; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate; no endocrine anomalies; hypotonia, weakness, areflexia, hammertoes, pes cavus, intoeing gait; sensory motor polyneuropathy; MRI brain hypomyelination 1 1 Johan den Dunnen
00306951 Pat12 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -2.5, weight SD -2.82, OFC SD -2.12; motor delay; speech delay; mild intellectual disability (non-verbal); facial dysmorphism; sensorineural hearing loss, moderate, unilateral; precocious puberty; mild hypotonia, patellar hyporeflexia, severe scoliosis; mild axonal neuropathy; MRI brain 9y-normal, previous exams raised concern for possible mild periventricular gliosis; absence seizures, velopharyngeal insufficiency, eosinophilic esophagitis, chronic constipation, history of feeding difficulties 1 1 Johan den Dunnen
00306952 Pat13 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT height SD -2.76, weight SD 0.1, OFC SD -2.64; no motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, unilateral hearing aid; hypothyroidism, premature thelarche, PCOS; weakness, hypotonia, normal reflexes, poor balance and coordination, lordosis; MRI brain cerebral and cerebellar volume loss, a couple of foci of T2 hyperintensity in cerebral white matter; narrow shoulders, brachydactyly, small hands, clinodactyly, myopia, possible macular degeneration, gastresophageal reflux, gallbladder disease, heterochromia 1 1 Johan den Dunnen
00306953 Pat14 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -3.3, weight SD -0.96, OFC SD -3.5; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate, bilateral; no endocrine anomalies; hypotonia, hyperreflexia, mild hemiplegic gait, tremor, dystonia, scoliosis; MRI brain cortical dysplasia; fetal finger pads, bilateral sandal gap, clynodactyly of toes 3, 4, and 5 1 1 Johan den Dunnen
00306954 Pat15 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -2.07, weight SD -0.82, OFC SD -3.27; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, progressive, bilateral, has cochlear implants; precocious puberty; hypotonia, difficulty with tandem gait, trips when running, mild intention tremor; normal at age 9 years; MRI brain delayed myelination, mild cerebellar volume loss; linear hypopigmentation in extremities, progressive hyperopia, mild retinal changes with normal ERG 1 1 Johan den Dunnen
00306955 Pat16 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT height SD -2.07, weight SD -1.23, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, moderate-to-severe, bilateral; no endocrine anomalies; severe spasticity (asymmetric), lower extremity hyperreflexia, unsteady, wide based gait, hammertoes and high arches not present on exam at age 12 years but significant at age 15 years; MRI brain cerebellar atrophy; resting tremor and dysmetria, history of seizures and staring spells with normal EEG, Wolff-Parkinson-White syndrome, vision impairment 1 1 Johan den Dunnen
00306956 Pat17 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CMT height SD -2.1, weight SD 0.5, OFC SD -2.1; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, bilateral, mild; no endocrine anomalies; hypotonia, weakness, high arches, intoeing gait, unilateral tremor, dystonic posturing, spasticity; sensory polyneuropathy; MRI brain MRI brain multiple foci stable chronic hemosiderin deposition within the supratentorial and infratentorial white matter; Tetralogy of Fallot 1 1 Johan den Dunnen
00306957 Pat18 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CMT height SD -1.2, weight SD 2.36, OFC SD 2.02; motor delay; speech delay; no facial dysmorphism; hypothyroidism; progressive, asymmetric limb weakness (left > right), muscle atrophy, foot drop, areflexia, ataxia, uses walker or wheelchair for ambulation; sensory motor neuropathy; MRI brain generalized brain atrophy and scattered subcortical and deep white matter microangiopathic changes disproportionate to patient’s age; essential thrombocytosis, grooved tongue, mildly elevated creatine kinase (500–900 U/L) 1 1 Johan den Dunnen
00306958 Pat19 PubMed: Sacoto 2020 family F - - - - - - - CMT height SD -2.29, weight SD -2.35, OFC SD 0.09; motor delay; speech delay; mild intellectual disability; facial dysmorphism; no hearing loss; growth hormone deficiency; hypotonia, weakness, hyporeflexia, ataxia, action tremor; MRI brain 3y-normal; duplicated collecting system 1 2 Johan den Dunnen
00306959 Pat20 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT motor delay 1 1 Johan den Dunnen
00306960 FamCMT105 PubMed: Albulym 2016 5-generation family, 20 affected (12F, 8M), unaffected non-carrier parents F;M - Australia - - - - - CMT see paper; ..., pyramidal signs 1 20 Johan den Dunnen
00306961 FamCMT895 PubMed: Albulym 2016 4-generation family, 1 affected, unaffected non-carrier parents F yes Australia - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00306962 FamWUNM0263 PubMed: Albulym 2016 4-generation family, 1 affected, unaffected parents M - United States - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00306963 FamWUNM0058 PubMed: Albulym 2016 4-generation family, affected mother/son F;M - United States - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00306965 FamWUNM0251 PubMed: Albulym 2016 3-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00306966 CMT102 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306967 CMT131 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306968 CMT739 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306969 CMT775 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306970 CMT791 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306971 Austrian-1 PubMed: Albulym 2016 family - - - - - - - - CMT - 1 1 Johan den Dunnen
00306972 ? PubMed: Albulym 2016 sporadic patient - - Austria - - - - - CMT - 1 1 Johan den Dunnen
00402928 Fam1 - - - no France - - - - - CMT2Z - 1 2 Arnaud Jacquier
00402929 Fam2 - - F no France - - - - - CMT2Z late-onset SMA presentation 1 1 Arnaud Jacquier
00455678 - - - M - - (not applicable) white - - - - DD HP:0000252, HP:0000154, HP:0004322, HP:0000336, HP:0000347, HP:0000486, HP:0000490, HP:0000365, HP:0000369, HP:0002650, HP:0001762, HP:0001763, HP:0002313, HP:0030084, HP:0040276, HP:0001249, HP:0100790 1 1 Marketa Wayhelova
00471340 CB-DYS-130 PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - DYT combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
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