Delayed speech and language development, and Autism

Diseases related with Delayed speech and language development and Autism

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


Top matches:

High match AUTISM, SUSCEPTIBILITY TO, 16; AUTS16

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of heterogeneity of autism, see {209850}.

AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 Is also known as autism with or without seizures

Related symptoms:

  • Seizures
  • Delayed speech and language development
  • Autism


SOURCES: MONDO OMIM UMLS

More info about AUTISM, SUSCEPTIBILITY TO, 16; AUTS16

High match MENTAL RETARDATION, X-LINKED 104; MRX104

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Behavioral abnormality
  • X-linked recessive inheritance


SOURCES: UMLS MONDO OMIM

More info about MENTAL RETARDATION, X-LINKED 104; MRX104

High match CHROMOSOME 2p16.3 DELETION SYNDROME

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see {181500}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: UMLS MONDO OMIM

More info about CHROMOSOME 2p16.3 DELETION SYNDROME

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Other less relevant matches:

High match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Abnormality of the genital system


SOURCES: UMLS MONDO OMIM EFO

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Related symptoms:

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


SOURCES: OMIM DOID MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

High match AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6

X-linked autism-6 is a neurodevelopmental disorder that affects only males. Some patients may respond favorably to carnitine supplementation (summary by Ziats et al., 2015).Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of heterogeneity of autism, see {209850}.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6 Is also known as epsilon-trimethyllysine hydroxylase deficiency;tmlhed

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ptosis
  • Delayed speech and language development
  • X-linked recessive inheritance


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6

High match AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: MESH MONDO UMLS OMIM

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

High match AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: OMIM MONDO UMLS

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1

High match AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


SOURCES: UMLS OMIM MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3

High 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

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Autistic behavior Uncommon - Between 30% and 50% cases
Restrictive behavior Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sporadic X-linked inheritance Stereotypy Childhood onset Multifactorial inheritance Increased serum serotonin Impaired use of nonverbal behaviors Lack of peer relationships Inflexible adherence to routines or rituals Lack of spontaneous play Heterogeneous EEG abnormality

Rare Symptoms - Less than 30% cases


Motor delay Abnormality of the genital system Cognitive impairment X-linked recessive inheritance Disturbance of facial expression Cerebral cortical atrophy Hyperactivity Attention deficit hyperactivity disorder Narrow mouth Large forehead Language impairment Behavioral abnormality Absent speech Abnormality of the skeletal system Autosomal dominant inheritance Abnormal facial shape Peripheral demyelination Growth delay Large for gestational age Atrial septal defect Aggressive behavior Mutism Ptosis Short philtrum Developmental regression Febrile seizures


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