Intellectual disability, severe, and Abnormality of movement

Diseases related with Intellectual disability, severe and Abnormality of movement

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


Top matches:

Low match HSD10 DISEASE, ATYPICAL TYPE


HSD10 DISEASE, ATYPICAL TYPE Is also known as syndromic x-linked intellectual disability type 10|hsd10 deficiency, atypical type|x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

Related symptoms:

  • Intellectual disability
  • Behavioral abnormality
  • Abnormality of movement


SOURCES: MESH ORPHANET MENDELIAN

More info about HSD10 DISEASE, ATYPICAL TYPE

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Intellectual disability, severe
  • Hyperactivity


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


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

Low match LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD

Low 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

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P


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

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Abnormality of movement

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Delayed speech and language development Ataxia

Rare Symptoms - Less than 30% cases


Myoclonus Inability to walk Muscular hypotonia of the trunk Nystagmus Cognitive impairment Abnormality of extrapyramidal motor function Hyperreflexia Tremor Hyperactivity Akinesia Resting tremor Cerebellar vermis atrophy Impulsivity Fasciculations Postural tremor Apathy Cogwheel rigidity Diplopia Limb ataxia Clumsiness Parkinsonism Progressive cerebellar ataxia Ophthalmoplegia Slow saccadic eye movements Elevated serum creatine phosphokinase Dysgraphia Unsteady gait Hypoglycosylation of alpha-dystroglycan Limb-girdle muscle weakness Ankle contracture Gowers sign Limb-girdle muscular dystrophy Lumbar hyperlordosis Waddling gait Muscular dystrophy Scanning speech Hyperlordosis Difficulty walking Rigidity Motor delay Flexion contracture Muscle weakness Microsaccadic pursuit Intermittent microsaccadic pursuits Aggressive behavior Postnatal microcephaly Gait ataxia EEG abnormality Abnormal pyramidal sign Autistic behavior Hypertonia Muscular hypotonia Abnormal facial shape Generalized myoclonic seizures Spasticity Involuntary movements Incomprehensible speech Short attention span Hypomimic face Intellectual disability, progressive Febrile seizures Attention deficit hyperactivity disorder Intellectual disability, mild Intellectual disability, profound Absence seizures Babinski sign Microcephaly Hyporeflexia Cerebellar atrophy Dysarthria Neoplasm Diffuse white matter abnormalities Leukodystrophy Progressive microcephaly Restlessness Infantile muscular hypotonia Athetosis Increased serum lactate Severe global developmental delay Dementia Absent speech Progressive extrapyramidal movement disorder Self-mutilation Tonsillitis



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