Microcephaly, and Gait disturbance

Diseases related with Microcephaly and Gait disturbance

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33

Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

Other less relevant matches:

Early infantile epileptic encephalopathy-34 is an autosomal recessive severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency|hypoacetylaspartia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about N-ACETYLASPARTATE DEFICIENCY; NACED

NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS Is also known as elhattab-alkuraya syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

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

Top 5 symptoms//phenotypes associated to Microcephaly and Gait disturbance

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

Other less frequent symptoms

Patients with Microcephaly and Gait disturbance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Encephalopathy Ventriculomegaly Hypoplasia of the corpus callosum Epileptic encephalopathy Postnatal microcephaly Muscular hypotonia of the trunk Cerebral cortical atrophy Hyperreflexia

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Abnormal facial shape Cerebral atrophy Short stature Stereotypy Spasticity Cerebellar hypoplasia Progressive microcephaly Hypertonia Unsteady gait Delayed ability to walk Focal-onset seizure Intellectual disability, profound Severe muscular hypotonia Self-injurious behavior Neurodevelopmental delay Hypertelorism Cerebral hypoplasia Increased body mass index Spastic tetraplegia Tetraplegia Spastic paraplegia Kyphoscoliosis Flexion contracture Short attention span Self-mutilation Involuntary movements Epicanthus Midface retrusion Behavioral abnormality Frontal bossing Microphallus Truncal obesity Gliosis Dystonia Obesity Cervical cord compression Tremor Delayed speech and language development Hypotelorism EEG abnormality Myoclonus Cerebellar atrophy Downslanted palpebral fissures Truncal ataxia Upslanted palpebral fissure Decreased body weight Hypsarrhythmia Developmental regression Apnea Babinski sign Motor delay Visual impairment Incoordination Aggressive behavior Status epilepticus Neonatal hypotonia Febrile seizures Generalized myoclonic seizures Polymicrogyria Autistic behavior Autism Abnormal pyramidal sign Muscle fibrillation Broad-based gait Spastic tetraparesis Generalized-onset seizure Inguinal hernia Macrocephaly Ataxia Cerebral white matter hypoplasia Hypoplasia of the brainstem Spastic gait Atonic seizures Tetraparesis Talipes equinovarus Decreased head circumference Hemiclonic seizures Generalized tonic-clonic seizures with focal onset Excessive salivation Delayed CNS myelination Poor eye contact


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