Intellectual disability, severe, and Dysmetria

Diseases related with Intellectual disability, severe and Dysmetria

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Dysmetria that can help you solving undiagnosed cases.

Top matches:

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

Other less relevant matches:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

High match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

High match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

High match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Dysmetria

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Dysmetria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Truncal ataxia Short stature Delayed speech and language development Cerebellar atrophy Gait ataxia Intention tremor Cognitive impairment Nystagmus Microcephaly Absent speech Dysarthria Spasticity Recurrent infections Hypoplasia of the brainstem Abnormal pyramidal sign Cerebellar hypoplasia Motor delay Hearing impairment Intellectual disability, moderate Hypoplasia of the corpus callosum Hyperreflexia Growth delay Hypothyroidism Abnormal facial shape Broad-based gait Dysdiadochokinesis Prominent forehead

Rare Symptoms - Less than 30% cases

Abnormality of vision Coarse facial features Edema Telangiectasia Downslanted palpebral fissures Flexion contracture Sensorineural hearing impairment Kyphosis Poor speech Micropenis Abnormal myelination Conductive hearing impairment Short palm Small hand Neonatal hypotonia Dystonia Patent ductus arteriosus Cryptorchidism Macrocephaly Cerebral atrophy Splenomegaly Hyperactivity Hypotelorism Macrotia Hepatomegaly Hypertelorism Abnormality of the eye Failure to thrive Type I transferrin isoform profile Cataract Reduced antithrombin III activity Lissencephaly Nonprogressive cerebellar ataxia Scoliosis Pachygyria Abnormal cerebellum morphology Muscular dystrophy Micrognathia Spastic tetraplegia Kyphoscoliosis Delayed skeletal maturation Gait disturbance Cerebral visual impairment Hernia Muscular hypotonia of the trunk Skeletal muscle atrophy Babinski sign Hypertonia Delayed myelination Ventriculomegaly EEG abnormality Anemia Cleft palate Glycopeptiduria Aggressive behavior Anterior beaking of thoracic vertebrae Mental deterioration Inguinal hernia Hydrocephalus High palate Immunodeficiency Depressivity Dementia Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Posteriorly rotated ears Retrognathia Umbilical hernia Fever Arthritis Anxiety Behavioral abnormality Atrial septal defect Abnormal heart morphology Short neck Ventricular septal defect Hypospadias Oligosacchariduria Tortuosity of conjunctival vessels Anhidrosis Dry skin Highly arched eyebrow Hypoplasia of the odontoid process Macroglossia Abnormality of the cardiovascular system Lipoatrophy Neurodevelopmental delay Decreased muscle mass Chronic otitis media Dysostosis multiplex Abnormality of pelvic girdle bone morphology Cardiomegaly Coxa valga Abnormality of the nail Spastic gait Gingival overgrowth Abnormal form of the vertebral bodies Decreased body weight Acrocyanosis Visceromegaly Elevated sweat chloride Abnormality of the gallbladder Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormal globus pallidus morphology Angiokeratoma corporis diffusum Progressive psychomotor deterioration Abnormal cornea morphology Angiokeratoma Broad long bones Generalized hyperkeratosis Vascular skin abnormality Cerebral hypomyelination Abnormality of the abdominal wall Vacuolated lymphocytes Mucopolysacchariduria Abnormality of the cerebral white matter Abnormality of the pinna Bicuspid aortic valve Blepharophimosis Truncus arteriosus Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Myelomeningocele Pierre-Robin sequence Perimembranous ventricular septal defect Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Interrupted aortic arch Platybasia Submucous cleft hard palate Aplasia of the thymus Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Psychotic episodes Mood swings Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Autoimmune thrombocytopenia Axonal loss Autoimmunity Renal agenesis Open mouth Primary amenorrhea Low posterior hairline Psychosis Tetralogy of Fallot Peripheral demyelination Amenorrhea Specific learning disability Underdeveloped nasal alae Hallucinations Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Pulmonic stenosis Congenital cataract Renal dysplasia Spina bifida Autoimmune hemolytic anemia Psoriasiform dermatitis Basal ganglia calcification Abnormality of the ear Myopathic facies Inflammation of the large intestine Acne Unilateral renal agenesis Obsessive-compulsive behavior Apathy Rheumatoid arthritis Hypocalcemia Cholelithiasis Nasal speech Abnormality of the hand Schizophrenia Arnold-Chiari malformation Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Corneal opacity Elevated serum creatine phosphokinase Skeletal dysplasia Deeply set eye Focal-onset seizure Prominent nose Triangular face Long face Neurological speech impairment Short philtrum Attention deficit hyperactivity disorder Thin upper lip vermilion Scrotal hypoplasia Mandibular prognathia Autism Cerebral cortical atrophy Dilatation Frontal bossing Aplasia of the inferior half of the cerebellar vermis Atrophy of the dentate nucleus Cerebellar vermis hypoplasia Prominent supraorbital ridges Thoracic kyphosis Blindness Polycystic ovaries Abnormal intestine morphology Hepatic failure Hypermetropia Hypoglycemia Agenesis of corpus callosum Areflexia Disorganization of the anterior cerebellar vermis Focal impaired awareness seizure Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Enlarged cisterna magna Poor eye contact Long nose External genital hypoplasia Abnormality of the neck Thoracic scoliosis Alopecia of scalp Spastic tetraparesis Type II lissencephaly Ankle clonus Congenital muscular dystrophy Exotropia Esotropia Polymicrogyria Myokymia Tetraparesis Cerebral dysmyelination Hypsarrhythmia Epileptic encephalopathy Tetraplegia Abnormality of the nervous system Myoclonus Encephalopathy Intellectual disability, mild Perisylvian polymicrogyria Frontoparietal polymicrogyria Cortical dysplasia Hyporeflexia Global brain atrophy Intellectual disability, progressive Heterotopia Brain atrophy Short foot Inability to walk Hirsutism Gaze-evoked nystagmus Polymicrogyria, anterior to posterior gradient Cortical gyral simplification Toe walking Cerebral palsy Progressive cerebellar ataxia Arachnodactyly Abnormality of movement Pes planus Abnormality of metabolism/homeostasis Partial agenesis of the corpus callosum Hyperinsulinemic hypoglycemia Hyperkeratosis Nail dysplasia Hemangioma Venous thrombosis Knee flexion contracture Decreased liver function Postnatal microcephaly Progressive neurologic deterioration Febrile seizures Dental malocclusion Trigonocephaly High, narrow palate Smooth philtrum Severe global developmental delay Prominent nasal bridge Retinopathy Apnea Camptodactyly Poor suck Flat occiput Myopathy Reduced protein C activity Brachycephaly Osteoporosis Hyperhidrosis Recurrent respiratory infections Abnormality of the dentition Muscle weakness Reduced protein S activity Abnormal macular morphology Increased variability in muscle fiber diameter Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Elevated hepatic transaminase Respiratory distress Protein-losing enteropathy Narrow mouth Round face Full cheeks Downturned corners of mouth Delayed puberty Small for gestational age Sparse hair Hyperlordosis Diabetes mellitus Renal hypoplasia Pectus excavatum Intrauterine growth retardation Epicanthus Elevated serum transaminases during infections Reduced factor XI activity Increased serum testosterone level Frontal balding Blue sclerae Fine hair Optic atrophy Maternal diabetes Hypertension Depressed nasal bridge Feeding difficulties Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Down-sloping shoulders Abnormal vertebral morphology Ketoacidosis High pitched voice Brisk reflexes Polyuria Hyperglycemia Polydipsia Oligodontia Type I diabetes mellitus Unilateral primary pulmonary dysgenesis


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