Intellectual disability, severe, and Depressivity

Diseases related with Intellectual disability, severe and Depressivity

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

Top matches:

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 27 Is also known as sca27|cerebellar ataxia, autosomal dominant, fgf14-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 27

High match RETT SYNDROME

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Other less relevant matches:

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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 Depressivity

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Macrotia Anxiety Short stature Scoliosis Cerebral cortical atrophy Abnormal facial shape Feeding difficulties Hearing impairment Absent speech Ataxia High palate Cataract Behavioral abnormality Autism Atrial septal defect Hypothyroidism Muscle weakness Cleft palate Failure to thrive Aggressive behavior High forehead Feeding difficulties in infancy Constipation Mental deterioration Tremor Cognitive impairment Strabismus Nystagmus Memory impairment Hyperactivity Growth delay Patent ductus arteriosus Self-injurious behavior

Rare Symptoms - Less than 30% cases

Abnormal heart morphology Dysphagia Retrognathia Hypospadias Tetralogy of Fallot Bruxism Abnormality of cardiovascular system morphology Chronic constipation Mood swings Poor eye contact Hypoplasia of the corpus callosum Ventricular septal defect Neonatal hypotonia Short philtrum Hemiplegia Otitis media Paresthesia Long face Umbilical hernia Coarse facial features Joint hypermobility Pulmonic stenosis Hypertension Broad eyebrow Mandibular prognathia Posteriorly rotated ears Pectus excavatum Obesity Tented upper lip vermilion Sinusitis Dilatation Arnold-Chiari malformation Frontal bossing Vesicoureteral reflux Poor speech Fever Neurological speech impairment Stereotypy Delayed speech and language development Abdominal distention Submucous cleft hard palate Arthritis Autistic behavior Hypertelorism Congenital cataract Cryptorchidism Low-set ears Macrocephaly Thrombocytopenia Difficulty walking Gait ataxia Downslanted palpebral fissures Cerebellar atrophy Hemolytic anemia Short nose Recurrent infections Midface retrusion Gastroesophageal reflux Dementia Chorea Aganglionic megacolon Attention deficit hyperactivity disorder Psychosis Developmental regression Anemia Arrhythmia Open mouth Abnormality of the dentition Respiratory insufficiency Drooling Hydrocephalus Spasticity Apathy Premature ovarian insufficiency Aplasia/Hypoplasia of the corpus callosum Dehydration Coarctation of aorta Sparse scalp hair Everted lower lip vermilion Widely spaced teeth Fine hair Cutaneous syndactyly Tapered finger Delayed eruption of teeth Febrile seizures Esotropia Focal-onset seizure Absence seizures Pointed chin Brain atrophy Postnatal microcephaly Recurrent otitis media Abnormality of the genital system Sloping forehead Megaloblastic anemia Iris coloboma Delirium Disproportionate tall stature Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Thyroglossal cyst Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Thromboembolism Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Cystathioninemia Pain Falls Hydronephrosis Cleft upper lip Slurred speech Abnormality of the cerebral white matter Finger syndactyly Pectus carinatum Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Postnatal growth retardation Abnormality of the kidney Telecanthus Deeply set eye Ptosis Agenesis of corpus callosum Poor suck Ectopia lentis Microphthalmia Syndactyly Diarrhea Vomiting Ventriculomegaly Wide nasal bridge Epicanthus Motor delay Abnormality of the genitourinary system Happy demeanor Pyloric stenosis Basal ganglia calcification Pierre-Robin sequence Delusions Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Myelomeningocele Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Truncus arteriosus Echolalia Bicuspid aortic valve Giant platelets 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 Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Retinal vascular tortuosity Abnormality of the endocrine system Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Schizophrenia Holoprosencephaly Sparse eyebrow Tracheal stenosis Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Abnormality of retinal pigmentation Deep plantar creases Subglottic stenosis Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Abnormality of the gastrointestinal tract Misalignment of teeth Abnormal morphology of the hippocampus Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis External ear malformation Drowsiness Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Abnormal eye morphology Large basal ganglia Purpura Underdeveloped nasal alae Narrow palpebral fissure Multicystic kidney dysplasia Hypocalcemia Spina bifida Hallucinations Renal dysplasia Primary amenorrhea Low posterior hairline Peripheral demyelination Amenorrhea Specific learning disability Renal agenesis Bifid uvula Pulmonary artery sling Bulbous nose Dysmetria Anal atresia Autoimmunity Blepharophimosis Abnormality of the pinna Conductive hearing impairment Inguinal hernia Hernia Immunodeficiency Short neck Aplasia/Hypoplasia of the cerebral white matter Atherosclerosis Irregular dentition Anorexia Dysphonia Dry skin Abnormality of the eye Jaundice Hypogonadism Optic atrophy Submucous cleft soft palate Tented philtrum Neonatal hypoglycemia Oral-pharyngeal dysphagia Spinal muscular atrophy Sacral dimple Sleep disturbance Narrow forehead Broad nasal tip Highly arched eyebrow High, narrow palate Thick eyebrow Dolichocephaly Hypoglycemia Babinski sign Skeletal muscle atrophy Flexion contracture Oral cleft Macroglossia Thin fingernail Growth abnormality Pseudohypoparathyroidism Anterior hypopituitarism Hypothermia Abnormal eyelid morphology Palpebral edema Congenital hypothyroidism Prolonged neonatal jaundice Abnormality of the thyroid gland Tracheoesophageal fistula Intestinal obstruction Abnormality of vision Hypotension Goiter Anosmia Oligodontia Reduced tendon reflexes Abnormality of the hair Abnormality of epiphysis morphology Nephrolithiasis Large fontanelles Abnormality of the face Depressed nasal ridge Micrognathia Narrow foot Thyroid hypoplasia Peripheral neuropathy Akinesia Postural tremor Truncal ataxia Limb ataxia Sensory neuropathy Dyskinesia Pes cavus Intellectual disability, mild Gait disturbance Dysarthria Hyperphenylalaninemia Sensory axonal neuropathy Motor deterioration Lack of skin elasticity Hypopigmentation of hair Eczema Cerebral calcification Hypopigmentation of the skin Paraplegia Nausea and vomiting Hypertonia Hyperreflexia Impaired vibratory sensation Gaze-evoked nystagmus Abnormality of the antihelix Joint stiffness Acrocyanosis Abnormality of the skull Dysphasia Decreased muscle mass Hemiplegia/hemiparesis Abnormality of the metacarpal bones Apraxia Tetraplegia Abnormality of movement Arthrogryposis multiplex congenita EEG abnormality Hand tremor Clinodactyly of the 5th finger Dystonia Hepatomegaly Red-green dyschromatopsia Abnormality of ocular smooth pursuit Paroxysmal dyskinesia Dysmetric saccades Dysgraphia Orofacial dyskinesia Head tremor Impaired smooth pursuit Primary hypothyroidism Increased thyroid-stimulating hormone level Recurrent urinary tract infections Periventricular gray matter heterotopia Congestive heart failure Visual impairment Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Encopresis Oppositional defiant disorder Abnormal head movements Weight loss Shyness Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Macroorchidism Broad palm Polyphagia Abnormality of neuronal migration Large hands Renal insufficiency Reduced visual acuity Relative macrocephaly Hematuria Broad-based gait Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Aciduria Urinary incontinence Neutropenia Metabolic acidosis Hepatic steatosis Nephropathy Acidosis Abnormality of skin pigmentation Retinal degeneration Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Malabsorption Lethargy Hip dislocation Retinopathy Proteinuria Chronic otitis media Hyperkinesis Hoarse cry Abnormality of metabolism/homeostasis Intellectual disability, profound Neurodegeneration Severe global developmental delay Respiratory tract infection Muscular hypotonia of the trunk Rigidity Narrow mouth Brachycephaly Recurrent respiratory infections Pneumonia Malar flattening Aspiration Myopathy Depressed nasal bridge Abnormality of reproductive system physiology Large posterior fontanelle Thyroid dysgenesis Compensated hypothyroidism Angiokeratoma corporis diffusum Thyroid agenesis Abnormal pericardium morphology Ectopic thyroid Lower limb spasticity Severe muscular hypotonia Narrow face Intellectual disability, moderate Hyperpigmentation of the skin Heterotopia Mitral valve prolapse Overgrowth Round face Postural instability Thick vermilion border Facial asymmetry Wide mouth Protruding ear Joint laxity Infantile muscular hypotonia Pes planus Hostility Infantile axial hypotonia Central hypoventilation Facial hypotonia Central hypotonia Hypoventilation Progressive spasticity Myotonia Poor head control Optic nerve hypoplasia Unilateral primary pulmonary dysgenesis


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