Abnormality of the skeletal system, and Aggressive behavior

Diseases related with Abnormality of the skeletal system and Aggressive behavior

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Aggressive behavior that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59; MRT59


Related symptoms:

  • Intellectual disability
  • Aggressive behavior
  • Paranoia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59; MRT59

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5


Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Low match X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME


X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).

Related symptoms:

  • Seizures
  • Macrocephaly
  • Behavioral abnormality
  • Autism
  • Aggressive behavior


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED EPILEPSY-LEARNING DISABILITIES-BEHAVIOR DISORDERS SYNDROME

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Other less relevant matches:

Low match EFAVIRENZ, POOR METABOLISM OF


Highly active antiretroviral therapy (HAART) has reduced mortality associated with acquired immunodeficiency syndrome (AIDS; see {609423}) by at least 70%. Efavirenz is a non-nucleoside reverse transcriptase inhibitor that is frequently prescribed with 2 nucleoside reverse transcriptase inhibitors as initial therapy for human immunodeficiency virus (HIV) infection. However, during the first weeks of therapy, up to half of patients who receive efavirenz experience CNS side effects, including dizziness, insomnia, impaired concentration, somnolence, and abnormal dreams. Severe depression, aggressive behavior, and paranoid or manic reactions may also occur, and such side effects may reflect varying efavirenz plasma concentrations. Plasma clearance of efavirenz appears slower in African Americans than in European Americans, and studies have suggested earlier virologic failure on efavirenz for both African Americans and Hispanics compared with European Americans. Efavirenz is metabolized primarily by hepatic CYP2B6, with some involvement of CYP3A (CYP3A4 ) (summary by Haas et al., 2004).

Related symptoms:

  • Immunodeficiency
  • Depressivity
  • Aggressive behavior
  • Vertigo
  • Insomnia


SOURCES: OMIM MENDELIAN

More info about EFAVIRENZ, POOR METABOLISM OF

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46

Low match BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA


Related symptoms:

  • Seizures
  • Peripheral neuropathy
  • Ventriculomegaly
  • Aggressive behavior
  • Polymicrogyria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA

Low match MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14

Low match HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR


Hypomagnesemia, seizures, and mental retardation is a disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR

Low match JUVENILE MYOCLONIC EPILEPSY


Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome|juvenile myoclonus epilepsy|jme|myoclonic epilepsy, juvenile|petit mal, impulsive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressivity
  • Myoclonus
  • Aggressive behavior


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE MYOCLONIC EPILEPSY

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Aggressive behavior

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Status epilepticus Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Aggressive behavior. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressivity

Rare Symptoms - Less than 30% cases


Behavioral abnormality Generalized tonic-clonic seizures Generalized myoclonic seizures Microcephaly Poor speech Delirium Intellectual disability, severe Cerebellar hypoplasia Cerebellar vermis hypoplasia Visual hallucinations Absent speech Abnormality of eye movement Intellectual disability, moderate Hypomagnesemia Myoclonus Sensorimotor neuropathy Febrile seizures Generalized-onset seizure Absence seizures Abnormality of the mouth EEG with polyspike wave complexes Photosensitive tonic-clonic seizures Morning myoclonic jerks Focal impaired awareness seizure Agitation Hallucinations Specific learning disability Paranoia Cognitive impairment Developmental regression Psychosis Personality disorder Macrocephaly Autism Autistic behavior Immunodeficiency Polymicrogyria Vertigo Insomnia Mania Generalized hypotonia Growth delay Sleep disturbance Self-injurious behavior Peripheral neuropathy Ventriculomegaly EEG with generalized polyspikes



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