Ventricular septal defect, and EEG abnormality

Diseases related with Ventricular septal defect and EEG abnormality

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and EEG abnormality that can help you solving undiagnosed cases.


Top matches:

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Low match GLUCOCORTICOID DEFICIENCY 5; GCCD5


Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Ventricular septal defect
  • Congestive heart failure
  • Truncus arteriosus


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 5; GCCD5

Low match X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY


X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

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Other less relevant matches:

Low match OHDO SYNDROME


OHDO SYNDROME Is also known as ohdo blepharophimosis syndrome|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about OHDO SYNDROME

Low match KBG SYNDROME


KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Low match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low 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
  • Atrial septal defect
  • Autism


SOURCES: MESH OMIM MENDELIAN

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

Low 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
  • Atrial septal defect
  • Autism


SOURCES: OMIM MENDELIAN

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

Low 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
  • Atrial septal defect
  • Autism


SOURCES: OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Ventricular septal defect and EEG abnormality

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

Patients with Ventricular septal defect and EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Delayed speech and language development Hearing impairment Global developmental delay Patent ductus arteriosus Restrictive behavior Hyperactivity Abnormality of cardiovascular system morphology Lack of peer relationships Inflexible adherence to routines or rituals Strabismus Feeding difficulties Abnormality of the skeletal system Thrombocytopenia Abnormality of the dentition Cognitive impairment Lack of spontaneous play Muscular hypotonia Generalized hypotonia Stereotypy Increased serum serotonin Impaired use of nonverbal behaviors Long philtrum

Rare Symptoms - Less than 30% cases


Cleft palate Cryptorchidism Ptosis Failure to thrive Thick eyebrow Epicanthus Wide nasal bridge Ventriculomegaly Short stature Bulbous nose Prominent nasal bridge Clinodactyly of the 5th finger Smooth philtrum Triangular face Brachydactyly Syndactyly Abnormal heart morphology Constipation Macrotia Anxiety Aggressive behavior Intellectual disability, moderate Protruding ear Intellectual disability, mild Anteverted nares Ascites Immunodeficiency Edema Hemiparesis Intrauterine growth retardation Behavioral abnormality Hypertension Attention deficit hyperactivity disorder Sacral dimple Supernumerary nipple Cortical dysplasia Periorbital fullness Hypoplastic left heart Episodic vomiting Portal hypertension Cutis marmorata Toenail dysplasia Cerebellar cortical atrophy Abnormality of the metacarpal bones Hyperorality Delayed CNS myelination Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Pulmonary artery atresia Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Hypoplastic fingernail Bicuspid aortic valve Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Tongue thrusting Hair-pulling Leukopenia Sparse hair Talipes Toe syndactyly Pulmonic stenosis Leukemia Finger syndactyly Abnormal cardiac septum morphology Abnormality of the kidney Cirrhosis Osteopenia Cerebellar hypoplasia Alopecia Dilatation Microphthalmia Hypertonia Hydrocephalus Cleft upper lip Polymicrogyria Fulminant hepatic failure Split hand Absent fingernail Meningitis Recurrent pyelonephritis Aortic valve stenosis Telangiectasia Pachygyria Encephalocele Small nail Short distal phalanx of finger Pulmonary arterial hypertension Coarctation of aorta Tetralogy of Fallot Nail dysplasia Esotropia Gastrointestinal hemorrhage Premature birth Absent hand Absent toe Venous malformation Dolichocephaly High, narrow palate Thick vermilion border Hepatic failure Unsteady gait Facial asymmetry Nausea and vomiting Hypermetropia Abnormality of the pinna Renal cyst Irritability Hydronephrosis Neonatal hypotonia Deeply set eye Umbilical hernia Abnormality of the outer ear Increased intracranial pressure Sleep disturbance Full cheeks Recurrent skin infections Tall stature Short chin Multicystic kidney dysplasia Pointed chin Cerebral visual impairment Lymphedema Hypohidrosis Dental crowding Chronic diarrhea Vesicoureteral reflux Nephrolithiasis Long eyelashes Renal dysplasia Abnormality of the genital system Broad-based gait Hepatitis Dental malocclusion Poor head control Recurrent upper respiratory tract infections Abnormal pulmonary valve morphology Aplasia cutis congenita on trunk or limbs Vomiting Gait disturbance Macrocephaly Motor delay Bruxism High palate Pain Aplasia cutis congenita over posterior parietal area Malar flattening Acrania Heat intolerance Imperforate hymen Concave nasal ridge Periventricular cysts Cutis marmorata telangiectatica congenita Accelerated skeletal maturation Diarrhea Headache Gastroesophageal reflux Cellulitis Prominent supraorbital ridges Polycystic kidney dysplasia Large hands Hypoplastic toenails Agenesis of corpus callosum 2-3 toe syndactyly Hyporeflexia Obesity Recurrent infections Absent speech Weak cry Poor eye contact Impaired pain sensation Midface retrusion Palpebral edema Abnormality of the periventricular white matter Arachnoid cyst Hypoplasia of the corpus callosum Hip dysplasia Talipes equinovarus Abnormality of color vision Adrenal hypoplasia Urinary bladder sphincter dysfunction Loss of speech Primary adrenal insufficiency Bulbar palsy Axonal degeneration Bowel incontinence Impotence Tubular atrophy Adrenal insufficiency Emotional lability Personality changes Abnormality of mitochondrial metabolism Incoordination Slurred speech Spastic paraparesis Dyschromatopsia Achalasia Truncal ataxia Elevated long chain fatty acids Short nose Optic atrophy Fever Depressed nasal bridge Low-set ears Micrognathia Cone monochromacy Blue cone monochromacy Spinocerebellar tract degeneration Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Myelopathy Vegetative state Cerebral edema Paraparesis Leukodystrophy Severe short stature Sideroblastic anemia Blindness Peripheral neuropathy Visual impairment Spasticity Ataxia Truncus arteriosus Congestive heart failure Extramedullary hematopoiesis Visual loss Pericardial effusion Decreased liver function Oligohydramnios Metabolic acidosis Lactic acidosis Acidosis Arrhythmia Respiratory insufficiency Encephalopathy Pneumonia Hyperpigmentation of the skin Neurodegeneration Limb ataxia Psychosis Peripheral demyelination Hypotension Urinary incontinence Abnormal cerebellum morphology Polyneuropathy Retinal dystrophy Dementia Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Paralysis Mental deterioration Reduced visual acuity Gait ataxia Hypogonadism Recurrent respiratory infections Posteriorly rotated ears Cataract Short metacarpal Low anterior hairline Abnormal vertebral morphology Hypoplasia of dental enamel Low posterior hairline Anemia Otitis media Underdeveloped nasal alae Round face Short long bone Single transverse palmar crease Synophrys Neurological speech impairment Telecanthus Thin upper lip vermilion Skeletal dysplasia Brachycephaly Delayed skeletal maturation Oligodontia Abnormality of the hand Pectus excavatum Broad face Growth delay Vertebral arch anomaly Widely-spaced maxillary central incisors Cervical ribs Macrodontia Recurrent ear infections Rib fusion Beaking of vertebral bodies Radial deviation of finger Chronic constipation Thoracic kyphosis Megalocornea Long palpebral fissure Vertebral fusion Mixed hearing impairment Short femoral neck Flat occiput Clinodactyly Kyphosis Narrow mouth Joint hyperflexibility Interphalangeal joint contracture of finger Hypsarrhythmia Sloping forehead Specific learning disability Prominent nose Bifid uvula Thin vermilion border Abnormality of the foot Sparse and thin eyebrow Microtia Blepharophimosis Feeding difficulties in infancy Joint laxity Proteinuria Retrognathia Polyhydramnios Hypothyroidism Short palpebral fissure Bilateral single transverse palmar creases Short neck Bladder diverticulum Hypertelorism Abnormality of the cheek Neoplasm of the tongue Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Abnormal nasolacrimal system morphology Hypoplasia of teeth Widely spaced teeth Abnormality of the antihelix Stenosis of the external auditory canal Submucous cleft hard palate Atrioventricular canal defect Long nose Prominent occiput Adducted thumb Scrotal hypoplasia Disturbance of facial expression



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