Intellectual disability, severe, and Aggressive behavior

Diseases related with Intellectual disability, severe and Aggressive behavior

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Other less relevant matches:

High match JAWAD SYNDROME

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

High match UROCANIC ACIDURIA

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperactivity Autistic behavior Macrotia Absent speech Abnormal facial shape Poor speech

Rare Symptoms - Less than 30% cases

Autism Narrow palate Short stature Dystonia Ataxia Psychosis Cerebral cortical atrophy Tremor Generalized tonic-clonic seizures Deeply set eye Cerebral atrophy Strabismus Delayed speech and language development Behavioral abnormality Brachycephaly Neonatal hypotonia Anteverted nares Long ear Short philtrum Prominent supraorbital ridges Short attention span Restlessness Agitation Schizophrenia Delayed gross motor development Drooling Open mouth Facial hypotonia Slender build Flat face Anxiety Thin upper lip vermilion Short upper lip Upslanted palpebral fissure Short nose Retrocerebellar cyst High palate Failure to thrive Hearing impairment Brain atrophy Sensorineural hearing impairment Fever Hemiclonic seizures Bruxism Hyperventilation Atonic seizures Absence seizures Cutaneous photosensitivity Status epilepticus Epileptic encephalopathy Febrile seizures Focal-onset seizure Generalized myoclonic seizures Developmental regression EEG abnormality Encephalopathy Hyperreflexia Intrauterine growth retardation Cognitive impairment Spasticity Scoliosis Cerebral white matter atrophy Cerebral hypomyelination Corpus callosum atrophy Episodic fever CNS hypomyelination Tetraplegia Abnormality of eye movement Abnormal pyramidal sign Elevated hepatic transaminase Cerebellar atrophy Optic atrophy Distal muscle weakness Hyperactive deep tendon reflexes Myoclonus Syndactyly 4-5 toe syndactyly Congenital microcephaly Short middle phalanx of the 5th finger Thoracic scoliosis Abnormality of digit Anonychia Hallux valgus Sloping forehead Prominent nose Single transverse palmar crease Toe syndactyly Retrognathia Polydactyly Cryptorchidism Absent fourth finger distal interphalangeal crease Tented upper lip vermilion Everted lower lip vermilion Downturned corners of mouth Downslanted palpebral fissures Epicanthus Depressed nasal bridge Low-set ears Abnormality of the head Plagiocephaly Postnatal microcephaly Hypermetropia Cerebellar vermis hypoplasia Cerebellar hypoplasia Single interphalangeal crease of fifth finger Long philtrum Hyporeflexia Aciduria Macrocephaly Muscle weakness Urocanic aciduria Abnormality of histidine metabolism Mood changes Gaze-evoked horizontal nystagmus Action tremor Fair hair Blue irides Encephalitis Intellectual disability, progressive Truncal ataxia Broad-based gait Gait ataxia Mandibular prognathia Recurrent infections Dysarthria Nystagmus Kinetic tremor Hand tremor Self-mutilation Narrow palpebral fissure Waddling gait Small hand High, narrow palate Inability to walk Thick eyebrow Blepharophimosis Intermittent hyperventilation


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