Intellectual disability, severe, and Ophthalmoplegia

Diseases related with Intellectual disability, severe and Ophthalmoplegia

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 21


Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Medium match CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION


Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved (summary by Poirier et al., 2010).Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A (CFEOM3A ), a milder and somewhat different neurologic phenotype. Genetic Heterogeneity of Complex Cortical Dysplasia With Other Brain MalformationsSee also CDCBM2 (OMIM ), caused by mutation in the KIF5C gene (OMIM ) on chromosome 2q23; CDCBM3 (OMIM ), caused by mutation in the KIF2A gene (OMIM ) on chromosome 5q12; CDCBM4 (OMIM ), caused by mutation in the TUBG1 gene (OMIM ) on chromosome 17q21; CDCBM5 (OMIM ), caused by mutation in the TUBB2A gene (OMIM ) on chromosome 6p25; CDCBM6 (OMIM ), caused by mutation in the TUBB gene (OMIM ) on chromosome 6p21; CDCBM7 (OMIM ), caused by mutation in the TUBB2B gene (OMIM ) on chromosome 6p25; and CDCBM8 (OMIM ), caused by mutation in the TUBA8 gene (OMIM ) on chromosome 22q11.See also lissencephaly (e.g., LIS1, {607432}), which shows overlapping features and may result from mutation in tubulin genes.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICAL DYSGENESIS WITH PONTOCEREBELLAR HYPOPLASIA DUE TO TUBB3 MUTATION

Medium match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

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Other less relevant matches:

Medium match LEIGH SYNDROME WITH LEUKODYSTROPHY


LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

Medium match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Medium match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Medium match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Medium match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Medium match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventriculomegaly Spasticity Strabismus Dystonia Cognitive impairment Nystagmus Microcephaly Encephalopathy Open mouth Paralysis Flexion contracture Dysarthria Ptosis Muscular hypotonia Clumsiness Hypoplasia of the corpus callosum Increased serum lactate Intellectual disability, moderate Cerebral cortical atrophy Acidosis Failure to thrive Dilatation External ophthalmoplegia Hypertrophic cardiomyopathy Apnea Gait ataxia Muscle weakness Peripheral neuropathy Long face Hyperreflexia Gait disturbance Motor delay Feeding difficulties in infancy Hearing impairment Short stature Pain Delayed speech and language development Dysphagia Gastroesophageal reflux

Rare Symptoms - Less than 30% cases


Narrow face Decreased activity of the pyruvate dehydrogenase complex Stereotypy Aganglionic megacolon Choreoathetosis Vomiting Chorea Irritability Abnormality of metabolism/homeostasis Absent speech Joint hyperflexibility Pigmentary retinopathy Hyperactivity Mandibular prognathia Neonatal hypotonia Broad forehead Increased CSF lactate Headache Cachexia Hyperventilation Cardiomyopathy Respiratory distress Arrhythmia Dysphasia Hyperkinesis Mutism Poor suck Decreased body weight Involuntary movements Developmental regression Pectus excavatum Intellectual disability, mild Skeletal muscle atrophy Infantile spasms Myopathic facies Partial agenesis of the corpus callosum Heterotopia Lactic acidosis Hyperlordosis Facial palsy Abnormality of eye movement Respiratory failure Long philtrum Anteverted nares Myopathy Frontal bossing Wide nasal bridge Abnormal facial shape Growth delay Areflexia Scoliosis Ventricular septal defect Cerebellar atrophy Progressive cerebellar ataxia Lissencephaly Tetraplegia Polymicrogyria Aggressive behavior Muscular hypotonia of the trunk Abnormality of cardiovascular system morphology Dyspnea Babinski sign Agenesis of corpus callosum Behavioral abnormality Cerebellar hypoplasia Parkinsonism Progressive external ophthalmoplegia Mild global developmental delay Optic atrophy Tremor Neoplasm Rough bone trabeculation Alobar holoprosencephaly Broad clavicles High iliac wings Micrognathia Abnormal heart morphology Hypertelorism Unilateral facial palsy Highly elevated creatine phosphokinase Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Intercostal muscle weakness Facial hyperostosis Osteopathia striata Laryngotracheomalacia Patent ductus arteriosus Large iliac wings Downslanted palpebral fissures Abnormality of the dentition Laryngeal web Atrial septal defect Hydrocephalus Short neck Talipes equinovarus Abnormality of the skeletal system Macrocephaly Syndactyly Epicanthus Abnormality of the temporomandibular joint High palate Low-set ears Clinodactyly Cataract Craniofacial osteosclerosis Cleft palate Depressed nasal bridge Diffuse white matter abnormalities Hypointensity of cerebral white matter on MRI Pulmonary arterial hypertension Focal impaired awareness seizure Respiratory insufficiency due to muscle weakness Absence seizures Congenital hip dislocation Aspiration Sensorimotor neuropathy Progressive muscle weakness Pachygyria Bradykinesia Congenital muscular dystrophy Focal-onset seizure Macroglossia Inability to walk Abnormality of the cerebral white matter Muscular dystrophy Hip dislocation Kyphoscoliosis Elevated serum creatine phosphokinase Respiratory insufficiency Limb-girdle muscular dystrophy Hypokinesia Inferior vermis hypoplasia Atelectasis Increased endomysial connective tissue Impaired mastication Pontocerebellar atrophy Severe short stature Muscle fiber atrophy Increased connective tissue Cerebral edema Astrocytosis Reduced ejection fraction Weak cry Abnormal cortical gyration Myositis Recurrent lower respiratory tract infections Metaphyseal striations Abnormality of visual evoked potentials Straight clavicles Hypoventilation Abnormality of the periventricular white matter Protruding tongue Clinodactyly of the 5th finger High forehead Posteriorly rotated ears Abnormal vertebral morphology Spina bifida Increased bone mineral density Anal stenosis Joint contracture of the hand Fibular hypoplasia Tracheomalacia Aortic valve stenosis Ankylosis Pierre-Robin sequence Natal tooth Dental crowding Osteopetrosis Large fontanelles Misalignment of teeth Echolalia Omphalocele Abnormality of the metaphysis Thick lower lip vermilion Corticospinal tract atrophy Submucous cleft hard palate Thickened calvaria Coarctation of aorta Hyperostosis Metaphyseal widening Increased susceptibility to fractures Pyloric stenosis Nasal speech Nephroblastoma Cutaneous syndactyly Flat occiput Holoprosencephaly Spina bifida occulta Mixed hearing impairment Delayed cranial suture closure Osteolysis Microretrognathia Narrow palate Aphasia Hypoplastic left heart Spontaneous abortion Multicystic kidney dysplasia Visual field defect Ectopic anus Oligohydramnios Prominent forehead Flexion contracture of toe Arachnodactyly Thoracolumbar kyphosis Anal atresia Dolichocephaly Microtia Sclerosis of skull base Asymmetry of the thorax Craniosynostosis Camptodactyly Thin vermilion border Cleft lip Hydronephrosis Conductive hearing impairment Skeletal dysplasia Retrognathia Overfolded helix Polyhydramnios Hypothyroidism Brachycephaly Cleft upper lip Flat face Narrow forehead Broad ribs Cerebral calcification Specific learning disability Wide intermamillary distance Abnormality of the skin Webbed neck Dental malocclusion Intestinal malrotation Thoracic dysplasia Large forehead Otosclerosis Facial paralysis White forelock Delayed closure of the anterior fontanelle Bifid uvula Fibular aplasia Broad nasal tip Delayed eruption of teeth High, narrow palate Thick vermilion border Lumbar hyperlordosis Infantile muscular hypotonia Abnormal visual field test Malar flattening Delayed myelination Joint hypermobility Hypermetropia Attention deficit hyperactivity disorder Autistic behavior Pes cavus Constipation Midface retrusion Hypertonia Exotropia Feeding difficulties Focal T2 hyperintense basal ganglia lesion Decreased activity of mitochondrial respiratory chain Progressive spastic paraplegia Emotional lability Leukodystrophy Hypertrichosis Abnormality of movement Tall stature Redundant skin Increased adipose tissue Abnormality of creatine metabolism Metabolic acidosis Lethargy Small for gestational age Abnormality of the nervous system Pneumonia Cerebral atrophy Underfolded superior helices Poor hand-eye coordination Duodenal ulcer Language impairment Urethral stenosis Impaired social interactions Ileus Speech apraxia Chronic constipation Self-mutilation Athetosis Mask-like facies Anemia Increased serum pyruvate Brain atrophy Akinesia Microsaccadic pursuit Intermittent microsaccadic pursuits Scanning speech Dysgraphia Cogwheel rigidity Slow saccadic eye movements Cerebellar vermis atrophy Resting tremor Impulsivity Optic nerve hypoplasia Postural tremor Apathy Fasciculations Diplopia Limb ataxia Abnormality of extrapyramidal motor function Rigidity Hyporeflexia Polyneuropathy Congenital contracture Lower limb pain Chest pain Progressive sensorineural hearing impairment Multiple lipomas Ophthalmoparesis Slurred speech Ragged-red muscle fibers Exercise intolerance EMG abnormality Febrile seizures Dilated cardiomyopathy Hypoplasia of the brainstem Mental deterioration Myalgia Congestive heart failure Fatigue Hypertension Sensorineural hearing impairment Congenital fibrosis of extraocular muscles Cortical dysplasia Spastic diplegia Coma Spastic tetraplegia Abnormal mitochondria in muscle tissue Photosensitive tonic-clonic seizures Anxiety Proximal muscle weakness Dementia Rod-cone dystrophy Visual loss Blindness Visual impairment Loss of ability to walk in first decade Conspicuously happy disposition Retinopathy Inappropriate laughter Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Long nose Bowel incontinence Pallor Nyctalopia Aplasia/Hypoplasia of the cerebellum Heart block Abnormal basal ganglia MRI signal intensity Necrotizing encephalopathy Retinal arteriolar tortuosity Retinal pigment epithelial mottling Myoclonic spasms Breathing dysregulation Asymmetric septal hypertrophy Progressive gait ataxia Mitochondrial myopathy Paresthesia Sensory axonal neuropathy Constriction of peripheral visual field Oral-pharyngeal dysphagia Optic disc pallor Overgrowth Generalized muscle weakness Muscle cramps Neurodegeneration Sensory neuropathy Decreased muscle mass Abnormality of the thorax Tachypnea Severe lactic acidosis Apneic episodes precipitated by illness, fatigue, stress Basal ganglia cysts Chronic lactic acidosis Congenital lactic acidosis Flared nostrils Hyperalaninemia Olivopontocerebellar atrophy Broad philtrum Episodic ataxia Macrotia Breech presentation Short attention span Preeclampsia Mild microcephaly Ketosis Central hypotonia Global brain atrophy Hyperammonemia Autism Deeply set eye Adducted thumb Neuronal loss in central nervous system Drooling Aplasia/Hypoplasia of the corpus callosum Intellectual disability, progressive Truncal ataxia Clonus Postnatal microcephaly Intellectual disability, profound Generalized-onset seizure Epileptic encephalopathy Abnormality of the eye Urinary incontinence Sleep disturbance Thick eyebrow Unsteady gait Poor speech Abnormality of the foot Narrow chest Arthrogryposis multiplex congenita Severe global developmental delay Paranasal sinus hypoplasia



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