Showing of 20 Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Cogwheel rigidity 0002396 Frontal bossing 0002007 Intellectual disability Mental [rarediseases.info.nih.gov]

Waisman syndrome 311510 early-onset parkinsonism and intellectual disability RAB39B in Childhood onset dystonia or chorea or related movement disorder Version 1.4 Signed off v.1.2 on 25 Feb 2020 review X-LINKED: hemizygous mutation in males, biallelic [panelapp.genomicsengland.co.uk]

dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysarthria Difficulty articulating speech 0001260 Dyskinesia Disorder of involuntary muscle [rarediseases.info.nih.gov]

Houri Vorperian, PhD, studies how the oral and pharyngeal anatomy affects speech in individuals with Down syndrome and other populations. [waisman.wisc.edu]

MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr. [linkedlifedata.com]

[…] parkinsonism-intellectual disability syndrome Disease definition A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly [orpha.net]

Related phenotypes are macrocephaly and frontal bossing OMIM : 56 Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson [malacards.org]

Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Cogwheel rigidity 0002396 Frontal bossing 0002007 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Macrocephaly [rarediseases.info.nih.gov]

OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity), defects of the basal ganglia, megalencephaly, mental retardation and other variably present signs such as frontal bossing, persistent frontal lobe reflexes, strabismus [medical-dictionary.thefreedictionary.com]

Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional strabismus and seizures. The syndrome was named after Dr. [linkedlifedata.com]

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. [monarchinitiative.org]

However, the extra time… Travelers Returning from Arizona Greeted With Frigid Temperatures FARGO, N.D. -- The frigid temperatures have been affecting flights across the country. [kvrr.com]

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. [malacards.org]

bossing, persistent frontal lobe reflexes, strabismus and seizures. [medical-dictionary.thefreedictionary.com]

MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

(redirected from Waisman syndrome) Parkinsonism, early onset with mental retardation An extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity [medical-dictionary.thefreedictionary.com]

Orpha Number: 2379 Definition 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. [rarediseases.info.nih.gov]

MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. [malacards.org]

Seizure 0001250 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia [rarediseases.info.nih.gov]

disorder Speech impairment Speech impediment [ more ] 0002167 30%-79% of people have these symptoms Seizures Seizure 0001250 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 5%-29% of people have these symptoms Dementia Dementia, progressive [rarediseases.info.nih.gov]

The goal of this research is to provide initial estimates of the prevalence of types of speech disorders and motor speech disorders in adolescents with DS. [tandfonline.com]

tremor Tremor at rest 0002322 Shuffling gait Shuffled walk 0002362 X-linked recessive inheritance 0001419 Showing of 20 Last updated: 3/1/2020 If you need medical advice, you can look for doctors or other healthcare professionals who have experience [rarediseases.info.nih.gov]

Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. [moh-it.pure.elsevier.com]

0000486 5%-29% of people have these symptoms Dementia Dementia, progressive Progressive dementia [ more ] 0000726 Percent of people who have these symptoms is not available through HPO Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysarthria [rarediseases.info.nih.gov]

Among the five subtypes of dysarthria assessed by the Dysarthria Subtype Indices, ataxic dysarthria was significantly most prevalent, but there was support for mixed dysarthrias in over 50% of participants in the present study with CD or CD & CAS. [tandfonline.com]