Delayed speech and language development, and Atrial septal defect

Diseases related with Delayed speech and language development and Atrial septal defect

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

Medium 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

Medium match AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

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, stereotypical, 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).Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options.

AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 Is also known as chromosome xp22 deletion syndrome

Related symptoms:

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


SOURCES: OMIM GARD UMLS MONDO

More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

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Other less relevant matches:

Medium match CATARACT 21, MULTIPLE TYPES; CTRCT21

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract 21, multiple types, with or without microcornea, cataract, congenital, cerulean type, 4;cca4, cataract, pulverulent, juvenile-onset

Related symptoms:

  • Autosomal dominant inheritance
  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia


SOURCES: UMLS OMIM DOID MONDO MESH

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

Related symptoms:

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


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Medium match SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

Medium match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27

EIEE27 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures. Additional features may include hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27

Medium match AL-RAQAD SYNDROME; ARS

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about AL-RAQAD SYNDROME; ARS

Medium match MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

This form of autosomal recessive congenital muscular dystrophy is characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities;congenital megaconial myopathy; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities

Related symptoms:

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


SOURCES: MONDO DOID OMIM ORPHANET UMLS MESH GARD

More info about MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Atrial septal defect

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Autosomal recessive inheritance Microcephaly Autism Attention deficit hyperactivity disorder Motor delay Growth delay Autosomal dominant inheritance Short stature

Rare Symptoms - Less than 30% cases


Cardiomyopathy Hyperactivity Arrhythmia Hypsarrhythmia Patent foramen ovale Congenital onset Myopathy Patent ductus arteriosus Aggressive behavior Feeding difficulties Abnormal cardiac septum morphology Brachydactyly Deeply set eye Cerebral atrophy Joint laxity Thin upper lip vermilion Narrow mouth Dystonia Short nose Low-set ears Polymicrogyria Abnormal facial shape Mild microcephaly Hypoplasia of the corpus callosum Encephalopathy Cortical visual impairment Spasticity Generalized myoclonic seizures Chorea Visual impairment Epileptic encephalopathy Hyporeflexia Flat face Ichthyosis Difficulty standing Mitochondrial inheritance Mildly elevated creatine phosphokinase Infantile muscular hypotonia Congenital muscular dystrophy Gowers sign Trophic changes related to pain Frequent falls Mitral valve prolapse Waddling gait Poor speech Falls Dilated cardiomyopathy Muscular dystrophy Unsteady gait Slow progression Neonatal hypotonia Proximal muscle weakness Facial palsy Elevated serum creatine phosphokinase Cellulitis Intellectual disability, mild Skeletal muscle atrophy Muscle weakness Hyperplasia of the maxilla Sandal gap Inability to walk Hypopigmentation of the skin IgA deficiency Pica Recurrent skin infections Abnormality of the genital system Bifid uvula Microcornea Retinal detachment Iris coloboma Congenital cataract Coloboma Microphthalmia Cataract Motor tics Impulsivity Anxiety X-linked recessive inheritance Polar cataract Infantile onset Tics Ataxia Mutism Coarctation of aorta Hypermetropia Thin vermilion border Abnormality of the dentition Cryptorchidism Cleft palate Strabismus Nuclear cataract Posterior polar cataract Bicuspid aortic valve Obsessive-compulsive behavior Hoarse voice Absence seizures Decreased antibody level in blood Abnormality of the cerebral white matter Recurrent infections Immunodeficiency Tremor Failure to thrive Truncus arteriosus Uveitis Proportionate short stature Self-injurious behavior Lamellar cataract Stereotypy Abnormal heart morphology Abnormality of cardiovascular system morphology Ventricular septal defect Sick sinus syndrome Abnormal electroretinogram Bradycardia Retinal degeneration Nystagmus Cortical pulverulent cataract Cerulean cataract Macular hypoplasia Mitochondrial depletion



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