Intellectual disability, severe, and Vertigo

Diseases related with Intellectual disability, severe and Vertigo

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

Top matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Other less relevant matches:

SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HIGH MYOPIA-SENSORINEURAL DEAFNESS SYNDROME

HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

FAMILIAL PAROXYSMAL ATAXIA Is also known as episodic ataxia type 2

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PAROXYSMAL ATAXIA

Medium match PENDRED SYNDROME

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

PENDRED SYNDROME Is also known as thyroid hormonogenesis, genetic defect in, 2b|goiter-deafness syndrome|deafness with goiter|tdh2b|hypothyroidism, congenital, due to dyshormonogenesis, 2b|thyroid dyshormonogenesis 2b

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Respiratory insufficiency


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PENDRED SYNDROME

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Strabismus Behavioral abnormality Headache Developmental regression Hypertrophic cardiomyopathy Autism Autistic behavior Optic atrophy Sensorineural hearing impairment Peripheral neuropathy Spasticity

Rare Symptoms - Less than 30% cases

Delayed speech and language development Myopia Fever Tinnitus Diplopia Microcephaly Vomiting Bilateral sensorineural hearing impairment Migraine Dysarthria Drowsiness Coma Gastroesophageal reflux Hypoglycemia Conductive hearing impairment Proteinuria High myopia Torticollis Intellectual disability, moderate Hemiplegia Muscular hypotonia Generalized hypotonia Cognitive impairment Generalized amyotrophy Myoclonus Blindness Cerebral visual impairment Lymphedema Paresthesia Hyperreflexia Scoliosis Hepatomegaly Otitis media with effusion Reduced renal corticomedullary differentiation Malrotation of colon Abnormality of the umbilicus Hypoplastic radial head Dysplastic tricuspid valve Brachydactyly Duplication of internal organs Projectile vomiting Left-to-right shunt Fatigue Intention tremor Congestive heart failure Abnormality of cardiovascular system morphology Sudden cardiac death Syncope Mitral valve prolapse Ventricular hypertrophy Atrial fibrillation Palpitations Left ventricular hypertrophy Migraine without aura Borderline personality disorder Bradycardia Cardiac arrest Aortic regurgitation Atrioventricular block Hypertropia Curly eyelashes Esophageal stenosis Abnormality of digit Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Personality disorder Aspiration pneumonia Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Hiatus hernia Esophagitis Hypoplastic male external genitalia Perimembranous ventricular septal defect Ventricular extrasystoles Absent hand Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Short sternum Hypoplastic labia majora Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Ventricular fibrillation Hematuria Sinus bradycardia Hyperactive deep tendon reflexes Metabolic alkalosis Abnormality of the inner ear Cochlear malformation Hypoplasia of the cochlea Compensated hypothyroidism Unilateral deafness Euthyroid goiter Enlarged vestibular aqueduct Thyroid nodule Ventriculomegaly Obesity Loss of consciousness Poor speech Generalized muscle weakness Hypomagnesemia Alkalosis Photophobia Apraxia Abnormal cerebellum morphology Nausea Confusion Dysmetria Stroke Gait ataxia Moderate global developmental delay Depressivity Intellectual disability, mild Edema Tremor Hypermagnesiuria Abnormal myelination Thyroid carcinoma Tracheal stenosis Left ventricular noncompaction Irritability Severe hearing impairment Dystonia Restlessness Hypoglycemic seizures Hyperinsulinemic hypoglycemia Episodic ataxia Migraine with aura Blurred vision Albuminuria Profound hearing impairment Phonophobia Hemiparesis Rod-cone dystrophy Sick sinus syndrome Nausea and vomiting Dysphasia Hyperparathyroidism Aphasia Abnormality of the thyroid gland Vestibular dysfunction Congenital sensorineural hearing impairment Goiter Progressive hearing impairment Nephropathy Neurological speech impairment Proximal placement of thumb Carcinoma Hypothyroidism Abnormality of metabolism/homeostasis Dilatation Respiratory insufficiency Cerebellar vermis atrophy Clubbing Renal hypoplasia Self-injurious behavior Abnormal facial shape High palate Anemia Low-set ears Ptosis Cryptorchidism Cleft palate Micrognathia Depressed nasal bridge Failure to thrive Neoplasm Hypertelorism Growth delay Short stature Increased urinary O-linked sialopeptides Feeding difficulties Hypertension Long-tract signs Cardiomyopathy Thrombocytopenia Syndactyly Long philtrum Hypertonia Abnormality of the dentition Atrial septal defect Hydrocephalus Wide nasal bridge Short neck Anteverted nares Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Macrocephaly Intrauterine growth retardation Oligosacchariduria Angiokeratoma corporis diffusum Hypospadias Hemiplegia/hemiparesis Cerebral cortical atrophy Cerebellar hypoplasia Constipation Cataract Abnormality of brainstem morphology Telangiectasia of the skin Aplasia/Hypoplasia of the cerebellum Skeletal dysplasia Telangiectasia Abnormality of extrapyramidal motor function Sensory neuropathy Abnormal pyramidal sign Hyperkeratosis Muscle weakness Osteopenia Coarse facial features Progressive psychomotor deterioration Clonus Angiokeratoma Vascular skin abnormality Diffuse white matter abnormalities Psychomotor deterioration Vegetative state Recurrent pneumonia Cardiomegaly Apnea Generalized-onset seizure Generalized myoclonic seizures Tetraplegia Thick vermilion border Congenital cataract Abnormality of the cerebral white matter Severe global developmental delay Hernia Clinodactyly Pyloric stenosis Renal cyst Microdontia Otitis media Webbed neck Vesicoureteral reflux Sepsis Triangular face Microcornea Blue sclerae Delayed eruption of teeth Sleep disturbance Tapered finger Single transverse palmar crease Highly arched eyebrow Small hand Congenital diaphragmatic hernia Low posterior hairline Downturned corners of mouth Widely spaced teeth Short metatarsal Deep philtrum Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Spontaneous abortion Hypertrichosis Elbow flexion contracture Increased body weight Low anterior hairline Aspiration Long eyelashes Recurrent urinary tract infections Choanal atresia High, narrow palate Hirsutism Abnormal heart morphology Hyperactivity Thin upper lip vermilion Retrognathia Mandibular prognathia Proptosis Narrow mouth Glaucoma Brachycephaly Telecanthus Hyperhidrosis Prominent forehead Severe short stature Pneumonia Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Aggressive behavior Camptodactyly Pulmonary hypoplasia Pulmonic stenosis Thick eyebrow Thin vermilion border Cleft upper lip Astigmatism Micromelia Toe syndactyly Synophrys Abnormality of the pinna Hip dislocation Small for gestational age Prominent nasal bridge Craniosynostosis Pallor Respiratory tract infection Postnatal growth retardation Transient unilateral blurring of vision


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