Intellectual disability, severe, and Gait disturbance

Diseases related with Intellectual disability, severe and Gait disturbance

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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

Other less relevant matches:

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

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

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

Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Inability to walk Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Absent speech Microcephaly Nystagmus Dysarthria Strabismus Dystonia Cerebellar atrophy Hyperreflexia Aggressive behavior Spasticity Tremor

Rare Symptoms - Less than 30% cases

Delayed speech and language development Motor delay Difficulty walking Muscular dystrophy Dysgraphia Waddling gait Akinesia Tetraparesis Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar hypoplasia Limb ataxia Hypoplasia of the brainstem Hand tremor Truncal ataxia Exotropia Postural tremor Spastic tetraparesis Clumsiness Muscular hypotonia of the trunk Athetosis Abnormality of extrapyramidal motor function Severe global developmental delay Babinski sign Gait ataxia Rigidity Cognitive impairment Progressive cerebellar ataxia Depressivity Head tremor Hypertonia Self-mutilation Red-green dyschromatopsia Generalized myoclonic seizures Abnormality of ocular smooth pursuit Paroxysmal dyskinesia Dysmetric saccades Kinetic tremor Orofacial dyskinesia Impaired smooth pursuit Pes cavus Peripheral neuropathy Gaze-evoked nystagmus Intellectual disability, moderate Impaired vibratory sensation Intellectual disability, mild Memory impairment Sensory neuropathy Dyskinesia Sensory axonal neuropathy Dysmetria Abnormal pyramidal sign Frontoparietal polymicrogyria Oligosacchariduria Vacuolated lymphocytes Visceromegaly Thickened calvaria Generalized tonic-clonic seizures Coarse facial features Abnormality of metabolism/homeostasis Abnormality of the skeletal system Muscular hypotonia Growth delay Polymicrogyria, anterior to posterior gradient Cerebral dysmyelination Narrow palate Perisylvian polymicrogyria Nonprogressive cerebellar ataxia Type II lissencephaly Ankle clonus Congenital muscular dystrophy Lissencephaly EEG abnormality Pachygyria Broad-based gait Esotropia Abnormal cerebellum morphology Polymicrogyria Narrow palpebral fissure Blepharophimosis Small hand Muscle weakness Limb-girdle muscle weakness Ankle contracture Gowers sign Limb-girdle muscular dystrophy Lumbar hyperlordosis Behavioral abnormality Unsteady gait Hyporeflexia Hyperlordosis Elevated serum creatine phosphokinase Flexion contracture Microsaccadic pursuit Tonsillitis Intermittent microsaccadic pursuits Scanning speech Ophthalmoplegia Cogwheel rigidity Slow saccadic eye movements Cerebellar vermis atrophy Resting tremor Impulsivity Parkinsonism Apathy Fasciculations Hypoglycosylation of alpha-dystroglycan Talipes equinovarus High, narrow palate Epileptic encephalopathy Thick eyebrow Poor speech Diplopia Macrotia Mandibular prognathia Long philtrum Poor eye contact Neurodevelopmental delay Self-injurious behavior Severe muscular hypotonia Involuntary movements Cerebral cortical atrophy Neoplasm Encephalopathy Midface retrusion Cerebral atrophy Frontal bossing Dementia Cerebral white matter hypoplasia Increased serum lactate Progressive microcephaly Spastic gait Upslanted palpebral fissure Restlessness Aspartylglucosaminuria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Anxiety, related diseases and genetic alterations