Delayed speech and language development, and Focal seizures

Diseases related with Delayed speech and language development and Focal seizures

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


Top matches:

Low match SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life ({9,8:Scheffer et al., 1994, 1995}). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). Genetic Heterogeneity of Nocturnal Frontal Lobe EpilepsyNocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (OMIM ), which maps to chromosome 15q24; ENFL3 (OMIM ), caused by mutation in the CHRNB2 gene (OMIM ) on chromosome 1q21; ENFL4 (OMIM ), caused by mutation in the CHRNA2 gene (OMIM ) on chromosome 8p21; and ENFL5 (OMIM ), caused by mutation in the KCNT1 gene (OMIM ) on chromosome 9q34.Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF ), caused by mutation in the DEPDC5 gene (OMIM ) on chromosome 22q12.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Focal seizures
  • Childhood onset


SOURCES: MONDO MESH UMLS DOID OMIM

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1

Low match MENTAL RETARDATION, X-LINKED 96; MRX96

Related symptoms:

  • Intellectual disability
  • Seizures
  • X-linked dominant inheritance


SOURCES: MONDO UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 96; MRX96

Mendelian

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape


SOURCES: UMLS OMIM MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low 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

Low 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

Low 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

Low match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

Related symptoms:

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


SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

More info about PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

Low match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: MESH MONDO OMIM UMLS

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Low 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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Febrile seizures Microcephaly Absence seizures Generalized hypotonia

Rare Symptoms - Less than 30% cases


Autism Hyperreflexia Focal seizures with impairment of consciousness or awareness Autistic behavior Polymicrogyria Clonus Generalized myoclonic seizures Infantile onset Hypertonia Motor delay Brain atrophy Postnatal growth retardation Intrauterine growth retardation Growth delay Mild global developmental delay Cerebral atrophy Drooling Intellectual disability, mild Neurological speech impairment Pruritus Status epilepticus Muscle fibrillation Speech apraxia Perisylvian polymicrogyria Frontoparietal polymicrogyria Generalized hyperreflexia Congenital onset Cerebral cortical atrophy Absent speech Muscular hypotonia of the trunk Atonic seizures Cortical dysplasia Generalized tonic-clonic seizures Hyperactivity Short stature Childhood onset Auras X-linked dominant inheritance Abnormal facial shape Cognitive impairment Tremor Dystonia Myoclonus Behavioral abnormality Developmental regression Cerebellar atrophy Attention deficit hyperactivity disorder Abnormality of the cerebral white matter Hemiparesis Hemiplegia Abnormal cortical gyration Hemianopia Left hemiplegia Pica Ataxia Milia Inability to walk


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