Delayed speech and language development, and Febrile seizures

Diseases related with Delayed speech and language development and Febrile seizures

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a;mrt2a

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: MESH UMLS OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Cognitive impairment


SOURCES: MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

Medium match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: UMLS MONDO OMIM

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3

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Other less relevant matches:

Medium match GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 Is also known as gefs+, type 9;gefs+9

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Motor delay
  • Abnormal facial shape


SOURCES: UMLS OMIM DOID MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47 Is also known as ;

Related symptoms:

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


SOURCES: MONDO UMLS OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47

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

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM Is also known as ;asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MONDO OMIM UMLS

More info about SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Autism Common - Between 50% and 80% cases
Autistic behavior Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Generalized myoclonic seizures Focal seizures Hyperactivity Autosomal recessive inheritance Status epilepticus Microcephaly Absent speech Epileptic encephalopathy Hyperreflexia Ataxia Encephalopathy Cognitive impairment Autosomal dominant inheritance Attention deficit hyperactivity disorder

Rare Symptoms - Less than 30% cases


Motor delay Cerebral cortical atrophy Spasticity Congenital onset Abnormal facial shape Polymicrogyria Atonic seizures Milia Absence seizures Hemiparesis Generalized tonic-clonic seizures Cerebral atrophy Inability to walk Pica Developmental regression Intellectual disability, severe Aphasia Dysphasia Dysarthria Intellectual disability, moderate Language impairment Dysdiadochokinesis Urinary incontinence Apraxia Progressive cerebellar ataxia Behavioral abnormality Migraine Generalized seizures Hypoplasia of the corpus callosum Epileptic spasms Irritability Stereotypy Progressive microcephaly Hypsarrhythmia Spastic tetraplegia Hip dysplasia Delayed myelination Abnormality of the cerebral white matter Babinski sign Speech apraxia Arrhythmia Hemiclonic seizures Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Oromotor apraxia Agnosia Perisylvian polymicrogyria Intermittent hyperventilation Gastroesophageal reflux Hyperventilation Hypertonia Intellectual disability, mild Hemiplegia Cortical dysplasia Abnormal cortical gyration Hemianopia Left hemiplegia Cerebellar atrophy Focal seizures with impairment of consciousness or awareness Mild global developmental delay Cryptorchidism Ventriculomegaly Immunodeficiency Abnormality of the foot Tall stature Muscular hypotonia of the trunk Bruxism Growth delay Feeding difficulties Wide mouth Prominent nasal bridge Scoliosis Nevus Infantile onset Fever Dystonia EEG abnormality Aggressive behavior X-linked inheritance Psychosis Cutaneous photosensitivity Decreased light- and dark-adapted electroretinogram amplitude



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