Intellectual disability, and Bradycardia

Diseases related with Intellectual disability and Bradycardia

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

Top matches:

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Other less relevant matches:

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

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

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Top 5 symptoms//phenotypes associated to Intellectual disability and Bradycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Sinus bradycardia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arrhythmia Nystagmus Microcephaly Optic atrophy Sick sinus syndrome Spasticity Muscular hypotonia Apnea

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Cognitive impairment Feeding difficulties Failure to thrive Cardiomyopathy Dystonia Encephalopathy Myotonia Hypoglycemia Hypertrophic cardiomyopathy Metabolic acidosis Hearing impairment Generalized tonic-clonic seizures Respiratory distress Peripheral neuropathy Postnatal microcephaly Visual loss Central apnea Cerebellar atrophy Myopathy Intellectual disability, severe Low-set ears Areflexia Hypoplasia of the corpus callosum Impulsivity Status epilepticus Abnormality of eye movement Hyperbilirubinemia Mental deterioration Abnormality of the eye Stridor Acidosis Generalized-onset seizure Hypothyroidism Retinal degeneration Growth delay Congestive heart failure Fatigue Sudden cardiac death Attention deficit hyperactivity disorder Absent speech Motor delay Atrial fibrillation Palpitations Delayed speech and language development Atrioventricular block Hyperglycemia Short neck Severe global developmental delay Retinal dystrophy Progressive microcephaly Increased body weight Progressive hearing impairment Athetosis Gait disturbance Delayed myelination Ventriculomegaly Muscle fibrillation Poor eye contact Demyelinating peripheral neuropathy Scoliosis Inability to walk Protruding ear Ptosis Vegetative state Muscular hypotonia of the trunk Pallor Paraparesis Sloping forehead Intellectual disability, progressive Sensory axonal neuropathy Retinal atrophy Loss of speech Pontocerebellar atrophy Inverted nipples Intracellular accumulation of autofluorescent lipopigment storage material Laryngomalacia Increased neuronal autofluorescent lipopigment Apraxia Premature closure of fontanelles Strabismus Clumsiness Skeletal muscle atrophy Open mouth Edema Hyporeflexia Agenesis of corpus callosum Cerebral cortical atrophy Thin upper lip vermilion Kyphosis Peroneal muscle weakness Obesity Achilles tendon contracture Decreased cervical spine flexion due to contractures of posterior cervical muscles Rimmed vacuoles Absent muscle fiber emerin Pelvic girdle muscle atrophy Sprengel anomaly Ankle contracture Vocal cord paralysis Proximal amyotrophy Distal lower limb amyotrophy Limb-girdle muscle weakness Reduced ejection fraction Spinal rigidity Distal lower limb muscle weakness Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Type 1 muscle fiber atrophy Supraventricular arrhythmia Proximal upper limb amyotrophy Increased LDL cholesterol concentration Peroneal muscle atrophy Tip-toe gait Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Weakness of facial musculature Restricted neck movement due to contractures Pectus excavatum Scapular winging Elevated serum creatine phosphokinase Ventricular escape rhythm Hyperlordosis Joint stiffness Long philtrum Muscular dystrophy Dilated cardiomyopathy Ichthyosis Waddling gait Hypertriglyceridemia Elbow flexion contracture Respiratory insufficiency due to muscle weakness High palate Reduced tendon reflexes EMG: myopathic abnormalities Back pain Hydrocephalus Lipodystrophy Limb-girdle muscular dystrophy Toe walking Exertional dyspnea Anteverted nares Depressed nasal bridge Cyanosis Upslanted palpebral fissure Oral-pharyngeal dysphagia Neuronal loss in central nervous system Increased thyroid-stimulating hormone level Dry skin Abdominal distention Macroglossia Growth hormone deficiency Abnormal vertebral morphology Goiter Spondyloepiphyseal dysplasia Congenital hypothyroidism Hypothermia Thyroid hypoplasia Hoarse cry Feeding difficulties in infancy Ectopic thyroid Thyroid agenesis Large posterior fontanelle Thyroid dysgenesis Thyroid hemiagenesis Muscle weakness Hepatomegaly Small for gestational age Poor speech Lactic acidosis Lethargy Carcinoma Ascites Left ventricular hypertrophy Intellectual disability, mild Hyperactivity Keratoconus Receptive language delay Brachydactyly Abnormality of cardiovascular system morphology Vertigo Syncope Mitral valve prolapse Ventricular hypertrophy Cardiac arrest Umbilical hernia Aortic regurgitation Ventricular fibrillation Ventricular extrasystoles Left ventricular noncompaction Hypsarrhythmia Abnormal electroretinogram Patent foramen ovale Short stature Delayed skeletal maturation Constipation Tachycardia Increased serum lactate Nevus Episodic hemiplegia Muscle stiffness Abnormal autonomic nervous system physiology Slurred speech Hemiplegia Anhidrosis Wheezing Facial paralysis Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Wide nasal bridge Involuntary movements Tremor Respiratory insufficiency Cerebral atrophy Abnormality of metabolism/homeostasis Rod-cone dystrophy Dementia Respiratory failure Rigidity Peripheral axonal neuropathy Gliosis Exotropia Choreoathetosis Cardiomegaly Immunodeficiency Infantile muscular hypotonia Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Severe lactic acidosis Hyperalaninemia Decreased activity of mitochondrial respiratory chain Pain Dysphagia Headache Hemiparesis Recurrent infections Pes cavus Hyperhidrosis Dyspnea Developmental regression Paralysis Tetraplegia Parkinsonism Chorea Migraine Esotropia Ganglioneuroblastoma


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