Intellectual disability, severe, and Arrhythmia

Diseases related with Intellectual disability, severe and Arrhythmia

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

Top matches:

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

Low match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Other less relevant matches:

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Low match NARP SYNDROME

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Arrhythmia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Spasticity Muscular hypotonia Hearing impairment Hyporeflexia Cerebral cortical atrophy Respiratory failure Short stature Motor delay Microcephaly Myopathy Cardiomyopathy Respiratory distress Respiratory insufficiency Skeletal muscle atrophy Nystagmus Macroglossia Optic atrophy Areflexia Cognitive impairment Scoliosis Hypertension Dilatation Hypogonadism Abnormality of the eye Neonatal hypotonia Constipation Feeding difficulties in infancy Cataract Muscular dystrophy Dementia Flexion contracture Pain Visual loss Progressive muscle weakness Dysphagia Cerebral atrophy Sensory neuropathy Wide nasal bridge Apnea

Rare Symptoms - Less than 30% cases

Elevated serum creatine phosphokinase Pes cavus Hepatomegaly Proximal muscle weakness Behavioral abnormality Peripheral demyelination Dystonia Depressivity Blindness Anosmia Vomiting Dyspnea Growth delay Hypoventilation EEG abnormality Developmental regression Distal muscle weakness Myotonia Abnormal EKG Ventriculomegaly Arthrogryposis multiplex congenita Demyelinating peripheral neuropathy Tetraplegia Distal amyotrophy Heart block Decreased body weight Anxiety Failure to thrive Tremor Cerebellar atrophy Abnormality of metabolism/homeostasis Rod-cone dystrophy Mental deterioration Congenital muscular dystrophy Limb-girdle muscular dystrophy Poor suck Generalized-onset seizure Bradycardia Hyperlordosis Sensory axonal neuropathy Central apnea Intellectual disability, progressive Strabismus Encephalopathy Paralysis Nyctalopia Ophthalmoplegia Intestinal obstruction Paresthesia Pallor Acidosis Delayed speech and language development Edema Intestinal pseudo-obstruction Sensorineural hearing impairment Cerebral dysmyelination Abnormal eyebrow morphology Premature graying of hair White eyelashes Congenital nystagmus White forelock Hypopigmentation of hair White eyebrow Hypoplasia of the cochlea Heterochromia iridis Blue irides Decreased lacrimation Microcolon Meconium ileus Peripheral hypomyelination Ileus Alacrima White hair Spotty hyperpigmentation Recurrent lower respiratory tract infections Abnormality of the nervous system Portal hypertension Pontocerebellar atrophy Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Intercostal muscle weakness Abnormality of the temporomandibular joint Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Diffuse white matter abnormalities Cryptorchidism Muscle fiber atrophy Increased connective tissue Cerebral edema Astrocytosis Atelectasis Reduced ejection fraction Abnormal cortical gyration Myositis Highly elevated creatine phosphokinase Myopia Decreased nerve conduction velocity Spastic tetraplegia CNS hypomyelination Hypopigmented skin patches Torticollis Spastic paraparesis Abnormal autonomic nervous system physiology Leukodystrophy Hypohidrosis Aganglionic megacolon Underdeveloped nasal alae Splenomegaly Coma Hypopigmentation of the skin Distal sensory impairment Prominent nasal bridge Abnormal pyramidal sign Telecanthus Hepatosplenomegaly Abdominal pain Myoclonus Neonatal asphyxia Hypokalemia Myelin outfoldings Hypotension Reduced tendon reflexes Abnormality of the hair Sinusitis Abnormality of epiphysis morphology Nephrolithiasis Large fontanelles Abnormality of the face Depressed nasal ridge Abdominal distention Goiter Sleep disturbance Oral cleft Dry skin Jaundice Umbilical hernia Coarse facial features Hypothyroidism Feeding difficulties Absent muscle dystrophin expression Oligodontia Abnormality of vision Nocturnal hypoventilation Thyroid hypoplasia Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Hoarse cry Increased thyroid-stimulating hormone level Primary hypothyroidism Growth abnormality Pseudohypoparathyroidism Anterior hypopituitarism Hypothermia Abnormal eyelid morphology Palpebral edema Congenital hypothyroidism Prolonged neonatal jaundice Abnormality of the thyroid gland Tracheoesophageal fistula Red-green dyschromatopsia Hemiatrophy Hypoplasia of the semicircular canal Respiratory tract infection Sudden cardiac death Chest pain Falls Limb muscle weakness Dilated cardiomyopathy Cough Attention deficit hyperactivity disorder Scarring Hyperactivity Specific learning disability Recurrent respiratory infections Pneumonia Intellectual disability, mild Congestive heart failure Diarrhea Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Waddling gait Exercise intolerance Proximal lower limb amyotrophy Limb-girdle muscle weakness Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Chromosome breakage Ventricular arrhythmia Male pseudohermaphroditism Myoglobinuria Difficulty running Exertional dyspnea Difficulty climbing stairs Abnormality of color vision Calf muscle hypertrophy Toe walking Gowers sign Abnormality of visual evoked potentials Centrally nucleated skeletal muscle fibers Abnormality of the periventricular white matter High palate Broad-based gait Asthma Congenital cataract Severe short stature Talipes equinovarus Abnormality of the skeletal system Epicanthus Micrognathia Congenital contracture Thin fingernail Narrow foot Abnormality of the antihelix Acrocyanosis Abnormality of the skull Dysphasia Decreased muscle mass Hemiplegia/hemiparesis Coxa vara Metaphyseal irregularity Abnormality of the metacarpal bones Gait ataxia Generalized muscle weakness Muscle cramps Neurodegeneration Lactic acidosis Retinopathy Irritability Hypertrophic cardiomyopathy Babinski sign Short femoral neck Headache Dysarthria Visual impairment Sinus tachycardia Vertical nystagmus Metaphyseal cupping Thoracic scoliosis Generalized amyotrophy Self-injurious behavior Arnold-Chiari malformation Overgrowth Postnatal microcephaly Agenesis of corpus callosum Hypoplasia of the corpus callosum Premature closure of fontanelles Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Loss of speech Retinal atrophy Status epilepticus Severe global developmental delay Sloping forehead Cyanosis Neuronal loss in central nervous system Nevus Gliosis Peripheral axonal neuropathy Rigidity Low-set ears Muscular hypotonia of the trunk Abnormality of eye movement Stereotypy Vegetative state Apraxia Abnormality of movement Joint stiffness Macrotia Autism Clinodactyly of the 5th finger Abnormality of the dentition Poor eye contact Retinal degeneration Muscle fibrillation Hyperglycemia Athetosis Progressive hearing impairment Increased body weight Progressive microcephaly Metabolic acidosis Retinal dystrophy Chorea Pigmentary retinopathy Protruding tongue Obsessive-compulsive trait Intellectual disability, moderate Kyphoscoliosis Gastroesophageal reflux Cerebellar hypoplasia Gait disturbance Ring fibers Percussion myotonia Narcolepsy Hip dislocation Excessive daytime sleepiness Frontal balding First degree atrioventricular block Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Neurofibrillary tangles Facial palsy Abnormality of the cerebral white matter Alzheimer disease Congenital hip dislocation Weak cry Hypokinesia Myopathic facies Focal impaired awareness seizure Respiratory insufficiency due to muscle weakness Lissencephaly Absence seizures Aspiration Polymicrogyria Sensorimotor neuropathy Heterotopia Pachygyria Open mouth Pulmonary arterial hypertension Bradykinesia Focal-onset seizure Inability to walk Thin ribs Cholelithiasis Optic disc pallor Progressive gait ataxia Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Breathing dysregulation Asymmetric septal hypertrophy Progressive external ophthalmoplegia Abnormal visual field test Mitochondrial myopathy Hyperventilation Infantile spasms Constriction of peripheral visual field Oral-pharyngeal dysphagia Hyperkinesis External ophthalmoplegia Involuntary movements Abnormal mitochondria in muscle tissue Corticospinal tract atrophy Atrioventricular block Mitral valve prolapse Ventricular tachycardia Spontaneous abortion Cardiac arrest Insulin resistance Hydrops fetalis Atrial fibrillation Decreased fetal movement Premature birth Ptosis Brain atrophy Tachycardia Unsteady gait Lower limb muscle weakness Talipes Stroke Myalgia Polyhydramnios Abnormality of reproductive system physiology


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