Global developmental delay, and Left ventricular hypertrophy

Diseases related with Global developmental delay and Left ventricular hypertrophy

In the following list you will find some of the most common rare diseases related to Global developmental delay and Left ventricular hypertrophy that can help you solving undiagnosed cases.

Top matches:

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Other less relevant matches:

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' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-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, 2; MDDGB2

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Ventricular hypertrophy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Left ventricular hypertrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Seizures Intellectual disability Motor delay Myopia Muscular dystrophy Dilatation Hypertonia Spasticity Limb muscle weakness Flexion contracture Abnormality of the cerebral white matter Proximal muscle weakness Cognitive impairment Microcephaly Macroglossia Muscle weakness Myopathy Failure to thrive

Rare Symptoms - Less than 30% cases

Cardiomyopathy Neonatal hypotonia Generalized muscle weakness Progressive muscle weakness Autophagic vacuoles Hypoplasia of the corpus callosum Intellectual disability, severe Ventricular septal defect Pigmentary retinopathy Cryptorchidism Left ventricular systolic dysfunction Intrauterine growth retardation Cardiomegaly Arrhythmia Hepatomegaly Congenital muscular dystrophy Lissencephaly Retinopathy Hypokinesia Dandy-Walker malformation Hypertension Severe global developmental delay Hyporeflexia Hydrocephalus Ventriculomegaly Cerebellar hypoplasia Respiratory distress Skeletal muscle atrophy Absent speech Encephalopathy Lactic acidosis Headache Dystonia Gait disturbance Nystagmus Visual impairment Hyperreflexia Ataxia Congestive heart failure Muscular hypotonia Acidosis Abnormality of the periventricular white matter Delayed myelination Scoliosis Biventricular hypertrophy Psychosis Atrial fibrillation Palpitations Decreased liver function Cardiac arrest Exercise intolerance Hyperlipidemia Respiratory insufficiency due to muscle weakness Ventricular tachycardia Progressive visual loss Cone/cone-rod dystrophy EMG: myopathic abnormalities Ventricular arrhythmia Abnormal electroretinogram Back pain Neurodevelopmental delay Generalized amyotrophy Protruding tongue Caesarian section EMG: impaired neuromuscular transmission Second degree atrioventricular block Mental deterioration Primary hyperaldosteronism Pain Fatigue Depressivity Visual loss Pes cavus Hyperactivity Reduced visual acuity Abnormality of the eye Abnormality of the liver Focal myoclonic seizures Dexamethasone-suppresible primary hyperaldosteronism Abnormal circulating renin Scarring Uterine rupture Abnormal retinal morphology Periorbital fullness Severe failure to thrive Dilated cardiomyopathy Distal amyotrophy Distal sensory impairment Chest pain Short chin Cutis marmorata Hyperlordosis Obesity Hernia Long philtrum Short neck Areflexia Abnormal heart morphology Cerebral cortical atrophy Respiratory failure Micropenis Facial palsy Hip dislocation Patent ductus arteriosus Cerebellar vermis hypoplasia Open mouth Skeletal muscle hypertrophy Anteverted nares Calf muscle hypertrophy Hearing impairment Wide nasal bridge Growth delay Brachydactyly Sensorineural hearing impairment Abnormal facial shape Metabolic alkalosis Strabismus Cardiorespiratory arrest Small nail Abnormality of the gastrointestinal tract Failure to thrive in infancy Cleft palate Reduced ejection fraction Wolff-Parkinson-White syndrome Myocardial fibrosis Myofibrillar myopathy Skeletal myopathy Muscle flaccidity Retinal pigment epithelial mottling Exercise-induced muscle cramps Impaired myocardial contractility Retrognathia Ventricular preexcitation Myocardial necrosis Bifid uvula Thin vermilion border Macular hypopigmentation Suicidal ideation Wide mouth Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Umbilical hernia Coarse facial features Decreased circulating renin level Abnormal renal physiology Alkalosis Proximal muscle weakness in lower limbs Lower limb muscle weakness Gowers sign Myotonia Bundle branch block Right bundle branch block Difficulty climbing stairs Difficulty running Hypoventilation Progressive proximal muscle weakness Limb-girdle muscle weakness Limited extraocular movements Distal muscle weakness Cataract Microphthalmia Coloboma Corneal opacity Abnormality of skin pigmentation Retinal detachment High myopia Intellectual disability, profound Pachygyria Severe muscular hypotonia Hypoplasia of the brainstem Lethargy Myalgia Aqueductal stenosis Dysphonia Dysarthria Tremor Babinski sign Gait ataxia Confusion Vertigo Coma Brain atrophy Intention tremor Truncal ataxia Global brain atrophy Elevated hepatic transaminase Progressive spasticity Loss of speech Mild microcephaly Episodic ataxia Loss of ability to walk Optic atrophy Muscular hypotonia of the trunk Leukodystrophy Clonus High palate Kyphoscoliosis Hypoplasia of the pons Cerebellar dysplasia Adrenal hyperplasia Epistaxis Decreased activity of mitochondrial complex III Blindness Abnormality of the nervous system Spastic paraplegia Generalized tonic-clonic seizures Nausea Tetraplegia Generalized-onset seizure Spastic tetraplegia Pulmonary arterial hypertension Nephrolithiasis Abnormal enzyme/coenzyme activity Cerebral visual impairment Cerebral palsy Tinnitus Atrioventricular block Hypokalemia Patent foramen ovale Intracranial hemorrhage Polydipsia Focal impaired awareness seizure Athetosis Hyperaldosteronism Decreased activity of mitochondrial complex II Hyperalaninemia Type II lissencephaly Cerebellar atrophy Cerebellar cyst Agyria Severe hydrocephalus Dysphagia Gastroesophageal reflux Urinary incontinence Bowel incontinence Abnormality of refraction Diaphragmatic weakness Increased muscle glycogen content Abnormality of lysosomal metabolism Cerebral atrophy Abnormality of the renal tubule Apnea Small for gestational age Increased serum lactate Decreased fetal movement Postnatal microcephaly Bradycardia Aminoaciduria Opisthotonus Weak cry Hypothermia Severe lactic acidosis Skull asymmetry


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