Cardiomyopathy, and Severe global developmental delay

Diseases related with Cardiomyopathy and Severe global developmental delay

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Severe global developmental delay that can help you solving undiagnosed cases.


Top matches:

Medium match LETHAL INFANTILE MITOCHONDRIAL MYOPATHY


Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.

LETHAL INFANTILE MITOCHONDRIAL MYOPATHY Is also known as limd|limm|lethal infantile mitochondrial disease

Related symptoms:

  • Myopathy
  • Lactic acidosis
  • Lethal infantile mitochondrial myopathy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL INFANTILE MITOCHONDRIAL MYOPATHY

Medium match FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA


Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Medium match LIPOIC ACID SYNTHETASE DEFICIENCY


Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match PYRUVATE DEHYDROGENASE E3 DEFICIENCY


Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease|nadh-cytochrome b5 reductase deficiency|dihydrolipoamide dehydrogenase deficiency|nadh-dependent methemoglobin reductase deficiency|methemoglobinemia, congenital, autosomal recessive|dld deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY

Medium match ALG12-CDG


ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Severe global developmental delay

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Generalized hypotonia Cerebral atrophy Intellectual disability Lactic acidosis Hypoglycemia Feeding difficulties Ataxia Sensorineural hearing impairment Spasticity Motor delay Spastic tetraplegia Hydrocephalus Increased serum lactate Short stature Cataract Hypoplasia of the corpus callosum Myopathy Acidosis Encephalopathy Muscle weakness Skeletal muscle atrophy Obesity Respiratory insufficiency Cognitive impairment

Rare Symptoms - Less than 30% cases


Metabolic acidosis Muscular hypotonia Tetraparesis Exercise intolerance Aciduria Hypocalcemia Cerebral cortical atrophy Hypertonia Scoliosis Hepatomegaly Absent speech Intellectual disability, severe Elevated serum creatine phosphokinase Hypothyroidism Dementia Micropenis Macroglossia Left ventricular hypertrophy Dysarthria Ventricular hypertrophy Nystagmus Cryptorchidism Abnormality of the nervous system Spastic tetraparesis Cerebral palsy Unsteady gait Memory impairment Abnormal facial shape Athetosis Tetraplegia Respiratory tract infection Coma Talipes equinovarus Muscle cramps Visual impairment Hypertrophic cardiomyopathy Flexion contracture Dystonia Myoclonus Edema Neurodegeneration Abnormality of the cerebral white matter Progressive visual loss Progressive cerebellar ataxia Neutropenia Optic atrophy Recurrent infections Gastroesophageal reflux Visual loss Dilated cardiomyopathy Febrile seizures Paraplegia Hyperactivity Abnormality of movement Gait ataxia Spastic paraplegia Urinary incontinence Confusion Progressive microcephaly Hyperreflexia Abnormality of the genital system Hyperisoleucinemia Increased urine alpha-ketoglutarate concentration Blindness Immunodeficiency Midface retrusion Hypospadias Recurrent respiratory infections Skeletal dysplasia Abnormality of the pinna Short philtrum Sepsis Decreased antibody level in blood Limb undergrowth Rhizomelia Delayed speech and language development Limb ataxia Sandal gap Scrotal hypoplasia Hypoplasia of the radius Epiphyseal dysplasia Short humerus Abnormality of immune system physiology IgG deficiency Short tibia Short femur Prolonged partial thromboplastin time Generalized edema Butterfly vertebrae Choreoathetosis Hypogonadism Paraparesis Premature ovarian insufficiency Migraine Amenorrhea Bradykinesia Status epilepticus Progressive muscle weakness Diplopia Bradycardia External ophthalmoplegia Progressive hearing impairment Ragged-red muscle fibers EMG: myopathic abnormalities Mutism Dysphonia Bilateral ptosis Apathy Gliosis Ophthalmoparesis Ventricular fibrillation Sensory axonal neuropathy Coronary artery atherosclerosis Abnormality of the thyroid gland Resting tremor Insomnia Bipolar affective disorder Progressive external ophthalmoplegia Mitochondrial myopathy Limb-girdle muscle weakness Sensory ataxia Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Brain atrophy Parkinsonism Spastic paraparesis Fatigue Leukoencephalopathy Short attention span Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Pain Ptosis Peripheral neuropathy Tremor Gait disturbance Dysphagia Generalized muscle weakness Depressivity Arrhythmia Areflexia Hyporeflexia Elevated plasma branched chain amino acids Diabetes mellitus Rigidity Proximal muscle weakness Myalgia Ophthalmoplegia Limb muscle weakness Lower limb muscle weakness Paresthesia Sensory neuropathy Athetoid cerebral palsy Protruding tongue Abnormal cardiac ventricular function Polydactyly Congenital cataract Inability to walk Retinal dystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Generalized amyotrophy Enlarged cisterna magna Cerebellar dysplasia Fever Syndactyly Agenesis of corpus callosum Severe short stature Autism Facial palsy Abnormality of the eye Abnormality of eye movement Talipes Growth hormone deficiency Dehydration Heterotopia Optic nerve hypoplasia Precocious puberty Diabetes insipidus Short finger Absent septum pellucidum Hypopituitarism Severe vision loss Muscular dystrophy Cerebellar hypoplasia Panhypopituitarism Necrotizing encephalopathy Lethal infantile mitochondrial myopathy Hyperhidrosis Respiratory failure Muscular hypotonia of the trunk Mental deterioration Abnormality of the skin Progressive neurologic deterioration Shock Hypophosphatemia Muscle fibrillation Severe lactic acidosis Methylmalonic aciduria Poor motor coordination Respiratory distress Episodic metabolic acidosis Renal aminoaciduria Intermittent hyperpnea at rest Apnea Sleep disturbance Leukodystrophy Poor suck Profound global developmental delay Cerebral edema Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Myopia Amniotic constriction ring Adrenocorticotropic hormone deficiency Methemoglobinemia Small for gestational age Failure to thrive in infancy Cutis marmorata Severe failure to thrive Periorbital fullness Skull asymmetry Strabismus Cerebellar atrophy Vomiting Behavioral abnormality Headache Reduced visual acuity Elevated hepatic transaminase Lethargy Short chin Hepatic failure Cyanosis Intellectual disability, profound Involuntary movements Hyperammonemia Opisthotonus Neurodevelopmental delay Exertional dyspnea Polycythemia Hypercoagulability Decreased plasma carnitine Generalized tonic seizures Hepatic encephalopathy Lissencephaly Small nail Colpocephaly Wide nasal bridge Cavum septum pellucidum Hemianopia Anterior pituitary hypoplasia Optic disc hypoplasia Ectopic posterior pituitary Septo-optic dysplasia Pituitary dwarfism Bitemporal hemianopia Decreased circulating luteinizing hormone level Decreased circulating follicle stimulating hormone level Cleft palate Brachydactyly Intrauterine growth retardation Dandy-Walker malformation Ventricular septal defect Anteverted nares Short neck Long philtrum Hernia Patent ductus arteriosus Retrognathia Coarse facial features Umbilical hernia Wide mouth Thin vermilion border Bifid uvula Delayed myelination Subsarcolemmal accumulations of abnormally shaped mitochondria



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