Myopathy, and Agenesis of corpus callosum

Diseases related with Myopathy and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Myopathy and Agenesis of corpus callosum that can help you solving undiagnosed cases.

Top matches:

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

Other less relevant matches:

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Agenesis of corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar hypoplasia Micrognathia Areflexia Cataract Muscular hypotonia Skeletal muscle atrophy Muscle weakness Lissencephaly Congenital cataract Ptosis Flexion contracture Optic atrophy Intrauterine growth retardation Scoliosis Elevated serum creatine phosphokinase Cleft palate Strabismus Hypoplasia of the brainstem Coloboma Muscular dystrophy Hypoplasia of the corpus callosum Ventriculomegaly Encephalocele Pachygyria Anteverted nares Cerebellar vermis hypoplasia Gait disturbance Myopia Intellectual disability, mild Growth delay Abnormality of the cerebral white matter Optic nerve hypoplasia Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Buphthalmos Retinal dysplasia Holoprosencephaly Iris coloboma Low-set ears Glaucoma Peters anomaly Abnormal facial shape Abnormality of the pinna Cryptorchidism Dilatation Congenital muscular dystrophy Congenital glaucoma Arthrogryposis multiplex congenita Hypertelorism Specific learning disability Pectus excavatum Polymicrogyria Macrocephaly Agyria Hydronephrosis

Rare Symptoms - Less than 30% cases

Severe muscular hypotonia Neonatal hypotonia EEG abnormality Aplasia/Hypoplasia of the corpus callosum Malar flattening EMG abnormality Visual impairment Midface retrusion Generalized muscle weakness Hypertonia Intellectual disability, profound Ventricular septal defect Cortical dysplasia Plagiocephaly Abnormality of the cerebellar vermis Aplasia/Hypoplasia involving the skeletal musculature Motor delay Brachycephaly Camptodactyly of finger Knee flexion contracture Mask-like facies Absent septum pellucidum Kyphosis Narrow mouth Aggressive behavior Abnormal form of the vertebral bodies Metatarsus adductus Restlessness Submucous cleft hard palate Congenital contracture Retinal atrophy Renal agenesis Megalocornea Short stature Duodenal atresia Hypothyroidism Cleft lip Cleft upper lip Hypoplasia of penis Renal dysplasia Anophthalmia Posteriorly rotated ears Protruding ear Retinal detachment Bifid uvula Dandy-Walker malformation Severe short stature Torus palatinus Feeding difficulties Renal hypoplasia Blindness Short neck Spasticity Deeply set eye Nystagmus Atrial septal defect Prominent nasal bridge Microcornea Hypoplasia of the retina Dilated cardiomyopathy Corneal opacity Short palpebral fissure Neurodegeneration Brain atrophy Cognitive impairment Situs inversus totalis Wide anterior fontanel Joint contracture of the hand Multicystic kidney dysplasia Abnormality of the face Congestive heart failure Interphalangeal joint contracture of finger Peripheral demyelination High, narrow palate Renal hypoplasia/aplasia Abnormality of the urinary system Pulmonary hypoplasia Sclerocornea Pyloric stenosis Colpocephaly Zollinger-Ellison syndrome Abnormality of the penis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Distal arthrogryposis Radioulnar synostosis Cardiomyopathy Abnormality of the sternum Decreased muscle mass Hydroureter Dextrocardia Talipes Myotonia Arachnodactyly Respiratory tract infection Pectus carinatum Weak cry Cephalocele Thoracic hemivertebrae Exaggerated startle response Myocardial fibrosis Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Failure to thrive Spinal rigidity Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Hepatic steatosis Sudden cardiac death Hypoplasia of the pyramidal tract High palate Attention deficit hyperactivity disorder Retrognathia Blepharophimosis Joint stiffness Fixed facial expression Postnatal growth retardation Camptodactyly Abnormality of the kidney Arrhythmia Kyphoscoliosis Epicanthus Polyhydramnios Micropenis Hyperactivity Inguinal hernia Hypospadias Abnormality of cardiovascular system morphology Long philtrum Talipes equinovarus Inferior vermis hypoplasia Downslanted palpebral fissures Abnormal anatomic location of the heart Ankle clonus Irregular vertebral endplates Insulin-resistant diabetes mellitus Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Mixed hearing impairment Thoracic kyphosis Truncal obesity Anonychia Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Poor coordination Progressive gait ataxia Spastic paraparesis Posterior polar cataract Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Motor tics Basilar impression Absent axillary hair Abnormal glucose tolerance Broad face Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Osteolysis Paraparesis Hearing impairment Pes cavus Osteopenia Macrotia Autism Gait ataxia Diabetes mellitus Hypogonadism Osteoporosis Babinski sign Developmental regression Behavioral abnormality Abnormality of the skeletal system Hemivertebrae Peripheral neuropathy Anemia Neoplasm Ataxia Conductive hearing impairment Abnormal pyramidal sign Hypergonadotropic hypogonadism Hip dysplasia Clonus Gynecomastia Thickened skin Sparse scalp hair Thick lower lip vermilion Bradykinesia Cerebral calcification Otitis media Broad forehead Nevus Hypoplasia of the maxilla Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Genu valgum Narrow chest Synophrys Cardiomegaly Hip dislocation Congenital hip dislocation Metabolic acidosis Enlarged flash visual evoked potentials Short nasal bridge Uncontrolled eye movements Acidosis Proximal muscle weakness Facial palsy Decreased light- and dark-adapted electroretinogram amplitude Undetectable electroretinogram Cerebral atrophy Hypoplasia of the pons Gliosis Meningocele Increased serum lactate Neuronal loss in central nervous system Hemiplegia/hemiparesis Generalized-onset seizure Cerebral cortical atrophy Cerebellar atrophy Tetraparesis Lymphedema Hemangioma Choanal atresia Depressed nasal ridge Full cheeks Ambiguous genitalia Hypotelorism Tetralogy of Fallot Centrally nucleated skeletal muscle fibers Dysarthria Growth hormone deficiency Premature birth Ectodermal dysplasia Asthma Hand clenching Short philtrum Short nose Aplasia/Hypoplasia of the cerebellum Abnormality of the voice Anosmia Short columella Wide mouth Myoclonus Malabsorption Astigmatism Intestinal malrotation Prominent nose Preaxial polydactyly Corneal astigmatism Pallor Jejunal atresia Hypoplastic iris stroma Bilateral renal hypoplasia Retinal vascular tortuosity Accessory spleen Intestinal atresia Sex reversal Polydactyly Neurological speech impairment Infantile muscular hypotonia Focal segmental glomerulosclerosis Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Opacification of the corneal stroma Ragged-red muscle fibers CNS hypomyelination Glomerulosclerosis High myopia Wide nasal bridge Mildly elevated creatine phosphokinase Everted lower lip vermilion Opisthotonus Retinal degeneration Abnormality of movement Metabolic alkalosis Severe global developmental delay EMG: myopathic abnormalities Tented upper lip vermilion Bradycardia Posterior fossa cyst Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Wolff-Parkinson-White syndrome Abnormal levels of creatine kinase in blood Meningoencephalocele Remnants of the hyaloid vascular system Hypoplastic male external genitalia Excessive daytime sleepiness Muscle fiber splitting Aqueductal stenosis Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Left ventricular noncompaction Chorioretinal dysplasia Supraventricular tachycardia Abnormal myocardium morphology Apnea Preauricular skin tag Abnormal cerebellum morphology Pulmonic stenosis Hypermetropia Dolichocephaly Ectopia pupillae Cardiac arrest Rigidity Thick cerebral cortex Ventricular tachycardia Ventricular fibrillation Respiratory distress Respiratory insufficiency Hypoplastic left heart Delayed speech and language development Abnormal aldolase level Occipital encephalocele Abnormality of neuronal migration Precocious puberty Nasal obstruction Single naris Respiratory failure Hypothalamic hamartoma Semilobar holoprosencephaly Cyclopia Abnormality of the nasopharynx Single median maxillary incisor Panhypopituitarism Pyriform aperture stenosis Hyposmia Abnormality of chromosome segregation Maternal diabetes Median cleft lip Hamartoma Narrow nasal bridge Hirsutism Prominent median palatal raphe Midnasal stenosis Skeletal myopathy Oral cleft Atresia of the external auditory canal Endocardial fibroelastosis Heterotopia Abnormal atrioventricular conduction Decreased activity of mitochondrial complex I Histiocytoid cardiomyopathy Retinal dystrophy Anal atresia Pain Microtia Retinopathy Increased mitochondrial number Proptosis Hyporeflexia Frontal bossing Acute tubular necrosis Superiorly displaced ears


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