Cardiomyopathy, and Intellectual disability, mild

Diseases related with Cardiomyopathy and Intellectual disability, mild

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Intellectual disability, mild that can help you solving undiagnosed cases.


Top matches:

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5e type

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Cardiomyopathy
  • Intellectual disability, mild
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

Medium match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Medium match SARCOSINEMIA


Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

SARCOSINEMIA Is also known as sard deficiency|sardhd|sarcosine dehydrogenase complex deficiency|sardh deficiency|hypersarcosinemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SARCOSINEMIA

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Other less relevant matches:

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is 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.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium match NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

Medium match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Medium match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Exercise intolerance Proximal muscle weakness Myopathy Growth delay Delayed speech and language development Global developmental delay Seizures Gowers sign Elevated hepatic transaminase Hypertrophic cardiomyopathy Waddling gait Skeletal muscle atrophy Muscular hypotonia

Rare Symptoms - Less than 30% cases


Respiratory insufficiency Muscle cramps Difficulty climbing stairs Neck muscle weakness Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Depressed nasal bridge Hepatomegaly Easy fatigability Left ventricular hypertrophy Hypoglycemia Areflexia Ptosis Bilateral ptosis Difficulty running Progressive muscle weakness Hepatic steatosis Distal muscle weakness Difficulty walking Congestive heart failure Bifid uvula Fatigue Abnormal facial shape Sensorineural hearing impairment Hearing impairment Hyperlipidemia Dyspnea Dilated cardiomyopathy Hypertriglyceridemia Ichthyosis Cognitive impairment Muscular dystrophy Atrial septal defect Immunodeficiency Recurrent infections Abnormal heart morphology Microcephaly Aciduria Lactic acidosis Neonatal hypotonia Facial palsy Pulmonic stenosis Congenital contracture Ophthalmoparesis Hypothyroidism Hypogonadism Dysphonia EMG: myopathic abnormalities Prominent forehead Fever Cleft palate Generalized amyotrophy Long fingers Cleft lip Abnormality of the liver Exertional dyspnea Micrognathia Relative macrocephaly Sparse hair Broad forehead Leukemia Webbed neck Facial diplegia Growth hormone deficiency Cafe-au-lait spot Curly hair Juvenile myelomonocytic leukemia Broad neck Asymmetry of the thorax Hip contracture Centrally nucleated skeletal muscle fibers Abnormal heart valve morphology Long eyebrows Tachycardia Delayed puberty Hepatitis External ophthalmoplegia Type II transferrin isoform profile Retrognathia Increased intramyocellular lipid droplets Narrow mouth Hyperkeratosis Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Abnormal protein glycosylation Reduced antithrombin III activity Scoliosis Pes cavus Flexion contracture High palate Feeding difficulties Dysarthria Talipes equinovarus Feeding difficulties in infancy Hyperlordosis Chest pain Generalized muscle weakness Kyphosis Respiratory insufficiency due to muscle weakness Cardiac arrest Scapular winging Hypogonadotrophic hypogonadism Abnormality of the coagulation cascade Rhabdomyolysis Long face Protruding ear Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Ophthalmoplegia Decreased serum insulin-like growth factor 1 High forehead Increased hepatic glycogen content Edema Frequent falls Hypersarcosinemia Hyporeflexia Hyperactivity Attention deficit hyperactivity disorder Poor speech Falls Mitral valve prolapse Infantile muscular hypotonia Loss of speech Congenital muscular dystrophy Mildly elevated creatine phosphokinase Difficulty standing Mitochondrial depletion Nystagmus Cataract Lower limb muscle weakness Glutaric aciduria Tetraparesis Distal lower limb muscle weakness Hoarse voice Acidosis 3-Methylglutaconic aciduria Decreased activity of mitochondrial ATP synthase complex Failure to thrive Tremor Abnormality of the cerebral white matter Decreased antibody level in blood Absence seizures Abnormal pyramidal sign Leukoencephalopathy Bicuspid aortic valve Recurrent skin infections IgA deficiency Ataxia Optic atrophy Cerebral atrophy Limb-girdle muscular dystrophy Abnormal glycosylation Downslanted palpebral fissures Progressive proximal muscle weakness Pain Obesity Diabetes mellitus Myalgia Insulin resistance Fasciculations Psoriasiform dermatitis Increased muscle lipid content Sinus tachycardia Hypertelorism Cryptorchidism Low-set ears Epicanthus Wide nasal bridge Myopia Macrocephaly Peripheral neuropathy Increased muscle fatiguability Proximal muscle weakness in upper limbs Deeply set eye Hypoglycosylation of alpha-dystroglycan Distal upper limb muscle weakness Dilatation of the ventricular cavity Fatigable weakness of bulbar muscles Midface retrusion Hepatosplenomegaly Thin upper lip vermilion Peripheral axonal neuropathy Abnormality of lipid metabolism Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Ventricular hypertrophy Hepatic fibrosis Neurodevelopmental delay Type 1 muscle fiber predominance



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Narrow forehead, related diseases and genetic alterations Wide nasal bridge and Clinodactyly of the 5th finger, related diseases and genetic alterations Tremor and Coarctation of aorta, related diseases and genetic alterations High palate and Microtia, related diseases and genetic alterations

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