Delayed speech and language development, and Generalized myoclonic seizures

Diseases related with Delayed speech and language development and Generalized myoclonic seizures

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Generalized myoclonic seizures that can help you solving undiagnosed cases.


Top matches:

High match CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cerebellar atrophy
  • Generalized myoclonic seizures


SOURCES: OMIM

More info about CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Related symptoms:

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


SOURCES: DOID OMIM MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Medium match HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: UMLS MONDO OMIM

More info about HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Medium match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012).

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria;4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria; ssadh deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET MONDO MESH SCTID DOID GARD UMLS OMIM

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Medium match EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).

EPILEPSY, PYRIDOXINE-DEPENDENT; EPD Is also known as pyridoxine-dependent epilepsy;pde, pyridoxine dependency with seizures, aasa dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM

More info about EPILEPSY, PYRIDOXINE-DEPENDENT; EPD

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH Is also known as mental retardation, x-linked, with epilepsy;mrxe;mrxsh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Motor delay


SOURCES: ORPHANET MESH DOID MONDO OMIM UMLS

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MESH UMLS GARD MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 Is also known as epilepsy, female-restricted, with mental retardation;efmr, juberg-hellman syndrome;efmr; juberg-hellman syndrome

Related symptoms:

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


SOURCES: GARD DOID MESH OMIM MONDO ORPHANET UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized tonic-clonic seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Generalized myoclonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Status epilepticus Autosomal recessive inheritance Atonic seizures Infantile onset Epileptic encephalopathy Cognitive impairment Autism Intellectual disability, moderate Aggressive behavior Autistic behavior Hyperactivity Absence seizures Focal seizures Autosomal dominant inheritance Developmental regression

Rare Symptoms - Less than 30% cases


Febrile seizures Ataxia Motor delay Muscular hypotonia Intellectual disability, severe Fever Abnormality of metabolism/homeostasis Tremor Dystonia EEG abnormality Apraxia Epileptic spasms Cerebral atrophy Generalized tonic seizures Scoliosis Hypoplasia of the corpus callosum Hyporeflexia Psychosis Cerebral cortical atrophy Infantile spasms Microcephaly Arrhythmia Respiratory distress Encephalopathy Cerebellar atrophy Hypsarrhythmia Bruxism Hyperreflexia Behavioral abnormality Bradykinesia Drooling Postural instability Resting tremor Rigidity Slurred speech Parkinsonism Hypomimic face Action tremor Agraphesthesia X-linked recessive inheritance Babinski sign Abnormality of the cerebral white matter Astereognosia Attention deficit hyperactivity disorder Neurodegeneration Severe global developmental delay Impaired horizontal smooth pursuit Hemiclonic seizures Hyperventilation Cutaneous photosensitivity X-linked inheritance Nevus Spasticity EEG with burst suppression Infantile encephalopathy Spastic paraplegia Cerebral hypomyelination Neonatal onset CNS hypomyelination Intellectual disability, profound Spastic tetraplegia Tetraplegia Dyskinesia Focal seizures with impairment of consciousness or awareness Fetal distress Gait disturbance Death in infancy Respiratory insufficiency Aciduria Abnormality of eye movement Abnormality of the eye Abnormality of the nervous system Anxiety Stereotypy Hallucinations Involuntary movements Tics Strabismus Inability to walk Hypertonia Polymicrogyria Congenital onset Clumsiness Oculomotor apraxia Hypomagnesemia Acidosis Prenatal movement abnormality Muscular hypotonia of the trunk Feeding difficulties Gout Neonatal respiratory distress Generalized seizures Abdominal distention Myoclonus Self-injurious behavior Vomiting Milia Pica Paroxysmal dystonia Cataplexy Disinhibition Hyperkinesis Intermittent hyperventilation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Rigidity, related diseases and genetic alterations Myopia and Spina bifida, related diseases and genetic alterations Depressed nasal bridge and Absent speech, related diseases and genetic alterations Failure to thrive and Esotropia, related diseases and genetic alterations Growth delay and Intestinal malrotation, related diseases and genetic alterations Hearing impairment and Agenesis of corpus callosum, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more