Delayed speech and language development, and Abnormal cardiac septum morphology

Diseases related with Delayed speech and language development and Abnormal cardiac septum morphology

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


Top matches:

Low 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

Low 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

Low 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:

Low 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

Low 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

Low 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

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay


SOURCES: UMLS ORPHANET OMIM MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Abnormal cardiac septum morphology

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Generalized hypotonia 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 Abnormal cardiac septum morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Absent speech Autism Autosomal recessive inheritance Motor delay Growth delay Autosomal dominant inheritance Microcephaly Short stature

Rare Symptoms - Less than 30% cases


Hypsarrhythmia Arrhythmia Ventricular septal defect Attention deficit hyperactivity disorder Myopathy Hypoplasia of the corpus callosum Patent foramen ovale Cryptorchidism Strabismus Aggressive behavior Patent ductus arteriosus Feeding difficulties Deeply set eye Absence seizures Hypopigmentation of the skin Decreased antibody level in blood Abnormality of the cerebral white matter Recurrent infections Inability to walk Immunodeficiency Tremor Cardiomyopathy Hoarse voice Failure to thrive Pica Dilation of lateral ventricles Myopathic facies Increased variability in muscle fiber diameter Sandal gap Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Unsteady gait Bicuspid aortic valve Joint laxity Epileptic encephalopathy Thin upper lip vermilion Narrow mouth Congenital onset Short nose Brachydactyly Low-set ears Flat face Abnormal facial shape Mild microcephaly Open mouth Recurrent skin infections Generalized myoclonic seizures Chorea Polymicrogyria Encephalopathy Cerebral atrophy Dystonia Visual impairment Spasticity IgA deficiency Cellulitis Cortical visual impairment Abnormality of cardiovascular system morphology Decreased fetal movement Abnormality of the genital system Iris coloboma Congenital cataract Coloboma Microphthalmia Cataract Motor tics Impulsivity Anxiety Hyperactivity X-linked recessive inheritance Microcornea Infantile onset Tics Ataxia Mutism Coarctation of aorta Hypermetropia Thin vermilion border Abnormality of the dentition Cleft palate Retinal detachment Bifid uvula Long face Sick sinus syndrome Neonatal hypotonia Muscular hypotonia of the trunk Truncus arteriosus Uveitis Proportionate short stature Obsessive-compulsive behavior Self-injurious behavior Stereotypy Abnormal heart morphology Abnormal electroretinogram Nuclear cataract Bradycardia Retinal degeneration Nystagmus Cortical pulverulent cataract Cerulean cataract Macular hypoplasia Lamellar cataract Posterior polar cataract Polar cataract Hyperplasia of the maxilla



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