Intellectual disability, severe, and Bradykinesia

Diseases related with Intellectual disability, severe and Bradykinesia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Other less relevant matches:

Parkinson disease-17 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Wider et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Intellectual disability
  • Tremor
  • Dystonia
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 17; PARK17

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY Is also known as non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Tremor Hypomimic face Resting tremor Akinesia Parkinsonism Abnormal pyramidal sign Dyskinesia Scoliosis Delayed speech and language development Cognitive impairment Shuffling gait Postural instability Inability to walk Schizophrenia

Rare Symptoms - Less than 30% cases

EEG abnormality Psychosis Intellectual disability, moderate Abnormality of extrapyramidal motor function Abnormality of movement Dementia Dysarthria Behavioral abnormality Myoclonus Hypertonia Lewy bodies Autism Gait ataxia Pes cavus Areflexia Intellectual disability, mild Short stature Ataxia Macrocephaly Hallucinations Cerebral calcification Developmental regression Flexion contracture Muscular hypotonia of the trunk Poor speech Absent speech Chorea Focal-onset seizure Anarthria Focal impaired awareness seizure Kyphosis Ankle clonus Brain atrophy Spasticity Dysphagia Motor delay Skeletal muscle atrophy Gait disturbance Tics Irregular vertebral endplates Poor coordination Thoracic kyphosis Progressive gait ataxia Broad face Dystrophic fingernails Gynecomastia Thickened skin Abnormal form of the vertebral bodies Knee flexion contracture Clonus Generalized osteoporosis Bone cyst Sparse scalp hair Recurrent ear infections Ectopic calcification Narrow iliac wings Abnormal glucose tolerance Posterior polar cataract Thick lower lip vermilion Absent axillary hair Hyperreflexia Encephalopathy Hypergonadotropic hypogonadism Anonychia Osteolysis Plagiocephaly Abnormal palate morphology Visual hallucinations Self-injurious behavior Melanocytic nevus Bilateral cryptorchidism Metatarsus adductus Global brain atrophy Generalized-onset seizure Paraparesis Spastic paraparesis Truncal obesity Mixed hearing impairment Basal ganglia calcification Basilar impression Sparse body hair Congenital hypothyroidism Hip contracture Striae distensae Restlessness Insulin-resistant diabetes mellitus Mania Calcification of the auricular cartilage Motor tics Cogwheel rigidity Hyperphenylalaninemia Strabismus Frontal bossing Neurological speech impairment Hyporeflexia Fatigue Social and occupational deterioration Choreoathetosis Slurred speech Megalencephaly Personality disorder Microcephaly Limb hypertonia Depressivity Anxiety Small for gestational age Increased body weight Alzheimer disease Neurofibrillary tangles Bipolar affective disorder Delusions Preeclampsia Borderline personality disorder Mood swings Oculogyric crisis Broad-based gait Torus palatinus Fever Posterior scalloping of vertebral bodies Absent facial hair Increased size of the mandible Auditory hallucinations Superiorly displaced ears Hyperhidrosis Slowed slurred speech Abnormality of nervous system physiology Short stepped shuffling gait Memory impairment Leg muscle stiffness Weak voice Attention deficit hyperactivity disorder Involuntary movements Generalized tonic-clonic seizures Generalized myoclonic seizures Epileptic encephalopathy Arnold-Chiari type I malformation Myokymia Cortical myoclonus Hip dysplasia Myoclonic absences Nystagmus Obesity Eyelid myoclonus Macrotia Otitis media Progressive muscle weakness Hyperlordosis Paralysis Hip dislocation Muscular dystrophy Abnormality of the cerebral white matter Ophthalmoplegia Polymicrogyria Macroglossia Pulmonary arterial hypertension Open mouth Pachygyria Heterotopia Decreased body weight Sensorimotor neuropathy Facial palsy Aspiration Congenital hip dislocation Absence seizures Lissencephaly Respiratory insufficiency due to muscle weakness Poor suck Limb-girdle muscular dystrophy Congenital muscular dystrophy Myopathic facies Hypokinesia Weak cry Protruding tongue Abnormality of the periventricular white matter Feeding difficulties in infancy Neonatal hypotonia Abnormality of visual evoked potentials Bruxism Pain Feeding difficulties Myopia Cerebellar atrophy Cerebral atrophy Severe global developmental delay Unsteady gait Small hand Short foot High myopia Tetraparesis Spastic tetraparesis Central hypotonia Caudate atrophy Kyphoscoliosis Muscle weakness Muscular hypotonia Ventriculomegaly Respiratory insufficiency Respiratory distress Cardiomyopathy Dilatation Abnormality of metabolism/homeostasis Arrhythmia Elevated serum creatine phosphokinase Cerebellar hypoplasia Respiratory failure Gastroesophageal reflux Hypoventilation Recurrent lower respiratory tract infections Nevus Deeply set eye Malar flattening Microphthalmia Midface retrusion Pectus excavatum Babinski sign Agenesis of corpus callosum Osteoporosis Hypogonadism Diabetes mellitus Brachycephaly Narrow mouth Hypothyroidism Osteopenia Conductive hearing impairment Hydrocephalus Aggressive behavior Protruding ear Prominent nasal bridge Broad forehead Congenital cataract Synophrys Narrow chest Genu valgum Distal amyotrophy Short distal phalanx of finger Downturned corners of mouth Neurodegeneration Hypoplasia of the maxilla Myopathy Hypoplasia of the corpus callosum Myositis Abnormality of the temporomandibular joint Abnormal cortical gyration Reduced ejection fraction Atelectasis Astrocytosis Cerebral edema Increased connective tissue Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Impaired mastication Increased endomysial connective tissue Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Intercostal muscle weakness Anteverted nares Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Highly elevated creatine phosphokinase Hearing impairment Neoplasm Micrognathia Abnormal facial shape Cataract Cryptorchidism Ptosis Anemia Peripheral neuropathy Downslanted palpebral fissures Abnormality of the skeletal system Hypometric saccades


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