Global developmental delay, and Tachycardia

Diseases related with Global developmental delay and Tachycardia

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

Top matches:

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Other less relevant matches:

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY Is also known as autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term).

AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY Is also known as dominant katp hyperinsulinism due to kir6.2 deficiency|autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY

Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Global developmental delay and Tachycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Coma Diarrhea Vomiting Agitation Large for gestational age Secondary growth hormone deficiency Hypoketotic hypoglycemia Hyperinsulinemic hypoglycemia Abnormality of fatty-acid metabolism Motor delay Encephalopathy Spasticity Neonatal hypoglycemia Drowsiness Growth delay Microcephaly Pancreatic islet-cell hyperplasia Vitamin B1 deficiency Hyperinsulinemia Acidosis Feeding difficulties Progressive neurologic deterioration Cardiomyopathy Lethargy Pallor

Rare Symptoms - Less than 30% cases

Lactic acidosis Intrauterine growth retardation Metabolic acidosis Congestive heart failure Muscular hypotonia Infantile muscular hypotonia Small for gestational age Ataxia Dystonia Fever Abnormal brain FDG positron emission tomography Arrhythmia Decreased circulating cortisol level Bradycardia Increased serum lactate Hypertrophic cardiomyopathy Failure to thrive Progressive encephalopathy Renal tubular acidosis Nonprogressive encephalopathy Renal tubular dysfunction Stomatitis Breathing dysregulation Abnormality of the respiratory system Hypotension Abnormality of the musculature Congenital sensorineural hearing impairment Aminoaciduria Stereotypy Dry skin Jaundice Headache Hypertonia Hearing impairment Pain Atrophy/Degeneration affecting the brainstem Abnormality of tryptophan metabolism Alacrima Low-set ears Blotching pigmentation of the skin Hyperalaninemia Severe lactic acidosis Sinus bradycardia Wolff-Parkinson-White syndrome Ketonuria Aspiration pneumonia Pleural effusion Cardiomegaly Ascites Poor speech Hypoglycemia Optic atrophy Muscle weakness Limited hip extension Flexion contracture Self-injurious behavior Corneal scarring Hand clenching Short chin Open mouth Sensory neuropathy Scarring Apnea Neonatal hypotonia Areflexia Respiratory insufficiency Talipes equinovarus Peripheral neuropathy High palate Athetosis Hypertension Focal impaired awareness seizure Hand tremor Microphthalmia Myopia Strabismus Nystagmus Pretibial myxedema Activating thyroid-stimulating hormone receptor defect Eyelid retraction Thyrotoxicosis with diffuse goiter Thyroid hyperplasia Abnormal eye morphology Graves disease Autoimmune antibody positivity Hyperthyroidism Agenesis of corpus callosum Goiter Tachypnea Accelerated skeletal maturation Premature birth Sleep disturbance Proptosis Weight loss Hyperactivity Abnormality of metabolism/homeostasis Delayed speech and language development Feeding difficulties in infancy Visual impairment Cerebellar hypoplasia Muscular hypotonia of the trunk Hyperkinesis Renal insufficiency Poor head control Involuntary movements Choreoathetosis Focal-onset seizure Chorea Tetraplegia Dyskinesia Abnormality of movement Myoclonus Elevated serum creatine phosphokinase Absent speech Cerebral atrophy Cerebellar atrophy Dilated cardiomyopathy Hypoplasia of the corpus callosum Ventriculomegaly Hyperpigmented streaks Histiocytoid cardiomyopathy Lacrimal duct atresia Cavum septum pellucidum Dilation of lateral ventricles Sclerocornea Pericardial effusion Ventricular fibrillation Ventricular tachycardia Severe muscular hypotonia Cardiac arrest Decreased activity of mitochondrial respiratory chain


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