Low-set ears, and Encephalopathy

Diseases related with Low-set ears and Encephalopathy

In the following list you will find some of the most common rare diseases related to Low-set ears and Encephalopathy that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Other less relevant matches:

Medium match WEST SYNDROME

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Low-set ears and Encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Epileptic encephalopathy Hypoplasia of the corpus callosum Delayed speech and language development Growth delay Spasticity High palate Ataxia Short stature Depressed nasal bridge Hyperactivity Small hand Ventriculomegaly Hypertonia Absent speech Intellectual disability, severe Myoclonus CNS hypomyelination Brain atrophy Hypsarrhythmia Cerebral atrophy

Rare Symptoms - Less than 30% cases

Developmental regression Chorea Downslanted palpebral fissures Epileptic spasms Clinodactyly Gait ataxia Global brain atrophy Short attention span Tapered finger Severe global developmental delay Generalized-onset seizure Motor delay Cerebellar vermis atrophy Epicanthus Dysphagia Decreased liver function Poor eye contact Generalized myoclonic seizures Intrauterine growth retardation Respiratory insufficiency Muscular hypotonia of the trunk Wide nasal bridge Cognitive impairment Dysarthria Aggressive behavior Infantile spasms Tented upper lip vermilion Intellectual disability, profound Nystagmus Febrile seizures Strabismus Feeding difficulties Anteverted nares Generalized tonic-clonic seizures Progressive microcephaly Narrow forehead Short nose High forehead Ptosis Abnormal facial shape Recurrent respiratory infections Cerebellar atrophy Posteriorly rotated ears Long philtrum Postnatal microcephaly Happy demeanor Frontotemporal cerebral atrophy Hypertelorism Cerebral hypomyelination Atypical absence seizures CNS infection Inappropriate laughter Abnormality of the skeletal system Self-mutilation Hypointensity of cerebral white matter on MRI Prominent metopic ridge Autism Opisthotonus Brisk reflexes EEG with focal sharp slow waves Flat occiput Impulsivity Upslanted palpebral fissure Stereotypy Skeletal muscle atrophy Apraxia Inability to walk Smooth philtrum Wide mouth Thin upper lip vermilion Brachycephaly Hypospadias Acidosis Narrow mouth Respiratory tract infection Progressive encephalopathy Increased CSF lactate Fulminant hepatic failure Basal ganglia cysts Muscular hypotonia Flexion contracture Diarrhea Apnea Camptodactyly Erythema Cholestasis Skin rash Micromelia Thin vermilion border Bradycardia Elbow flexion contracture Abnormal intestine morphology Hyperammonemia Lower limb hyperreflexia Periventricular cysts Subependymal cysts Hypokinesia Bradykinesia Pes planus Sandal gap Deeply set eye Microtia Hypermetropia Long face Downturned corners of mouth Thick vermilion border Everted lower lip vermilion Short foot Long eyelashes Plagiocephaly Increased serum lactate Delayed ability to walk High anterior hairline Tented philtrum Hepatomegaly Cardiomyopathy Vomiting Abnormality of brainstem morphology Lactic acidosis Metabolic acidosis Delayed myelination Personality disorder Celiac disease Generalized tonic seizures Poor speech Diplopia Cerebral visual impairment Incoordination Dilated fourth ventricle Dystonia Micropenis Dyspnea Abnormality of the nervous system Dyskinesia Dysmetria Status epilepticus Tetraparesis Choreoathetosis Spastic tetraparesis Lissencephaly Hyperkinesis Muscle fibrillation Developmental stagnation Progressive cerebellar ataxia Toe syndactyly Abnormality of skin morphology Difficulty walking Coloboma Tetraplegia Spastic tetraplegia Atrophy/Degeneration affecting the brainstem Small anterior fontanelle Failure to thrive Tremor Babinski sign Spastic paraplegia Syndactyly Hypotelorism Broad-based gait Severe muscular hypotonia Drooling Progressive spasticity Abnormal CNS myelination Nasogastric tube feeding in infancy Scoliosis Visual impairment Spastic ataxia Hearing impairment Enlarged cisterna magna EEG abnormality Hypomagnesemia Slender build Gastrointestinal dysmotility Sensory ataxic neuropathy Macrocephaly Abnormality of the dentition Behavioral abnormality Gastroesophageal reflux Mental deterioration Mitochondrial myopathy Autistic behavior Falls Focal-onset seizure Gingival overgrowth Intellectual disability, progressive Relative macrocephaly Atonic seizures Abnormality of the periventricular white matter Progressive external ophthalmoplegia Malnutrition Muscle weakness Ophthalmoplegia Peripheral neuropathy Talipes equinovarus Myopathy Constipation Abdominal pain Respiratory failure Hypoglycemia Abnormality of the cerebral white matter Malabsorption Bilateral talipes equinovarus Unsteady gait Abdominal distention Generalized muscle weakness Hepatic fibrosis External ophthalmoplegia Leukoencephalopathy Ragged-red muscle fibers Cachexia Hypokalemia Necrolytic migratory erythema


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