A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age
[ncbi.nlm.nih.gov]
A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age.
[ncbi.nlm.nih.gov]
Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure.
[genome.jp]
Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.
[ninds.nih.gov]
MR imaging of a patient with epilepsy and psychomotor retardation at 5 months revealed parieto-occipital pachygyria with almost normal cortical appearance and thickness in
[ncbi.nlm.nih.gov]
Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type II fucosidosis
[ncbi.nlm.nih.gov]
In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.
[ncbi.nlm.nih.gov]
Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex.
[omicsonline.org]
The most severe form (form B) is characterized by neonatal lethal lactic acidosis, whereas patients with form A suffer chronic lactic acidosis with psychomotor retardation
[ncbi.nlm.nih.gov]
Psychomotor retardation with seizures and spasticity are the major clinical manifestations.
[merckmanuals.com]
[…] acidosis and central nervous system malformations and other postnatal changes, including cystic lesions of the cerebral cortex, brain stem, and basal ganglia; ataxia; and psychomotor
[msdmanuals.com]
Disease description A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation
[uniprot.org]
Patients with a TMEM70 defect have a variable phenotype which may include, hypertrophic cardiomyopathy, myopathy, dysmorphism, cataracts, psychomotor retardation, lactic acidosis
[invitae.com]
retardation, and, in most cases, 3-methyl-glutaconic aciduria.
[basicmedicalkey.com]
It is generally accepted that endogenous depression includes marked vegetative changes, such as loss of appetite, loss of weight, loss of sleep, psychomotor retardation or
[link.springer.com]
[…] score, presumably measuring mainly depressive mood and psychomotor retardation.
[ncbi.nlm.nih.gov]
[…] depression major depressive disorder characterized by signs and symptoms of psychomotor retardation, such as burdened movements and slowed, toneless speech. en·dog·e·nous
[medical-dictionary.thefreedictionary.com]
Accompanied by severe respiratory problems that are often fatal during the first year of life, mental retardation, hypotonia, muscle weakness, and psychomotor retardation.
[accessanesthesiology.mhmedical.com]
There is difficulty feeding, failure to thrive, retarded psychomotor development, and predisposition to respiratory infection.
[rxlist.com]
Slow development of voluntary movements (psychomotor retardation) may also occur.
[rarediseases.org]
Measures of depression severity, psychomotor retardation, verbal and visual memory and vascular and specific genetic risk factors were collected.
[ncbi.nlm.nih.gov]
CONCLUSION: We concluded that early onset depression patients have more severe psychomotor retardation and general somatic symptoms than late onset depression patients in
[koreamed.org]
retardation Physical pains without any discernable reason Gastrointestinal symptoms Headaches Multiple diffuse symptoms Insomnia or hypersomnia Fatigue or reduction in energy
[valleybehavioral.com]
We report a case of an 8-year-old girl with psychomotor retardation and mild course of the disease.
[ncbi.nlm.nih.gov]
In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of uracil and thymine were detected in urine.
[ncbi.nlm.nih.gov]
Haploinsufficiency of NTNG1, LPPR4, GPSM2, COL11A1 and VAV3 might have contributed to the severe psychomotor retardation and unusual craniofacial features in this patient.
[ncbi.nlm.nih.gov]
retardation, and varying degrees of ocular, pulmonary or hepatic involvement.
[ncbi.nlm.nih.gov]
The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development.
[ncbi.nlm.nih.gov]
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid
[ncbi.nlm.nih.gov]
The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and cognitive impairment.
[ncbi.nlm.nih.gov]
Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks.
[ncbi.nlm.nih.gov]
retardation 0025356 Simplified gyral pattern 0009879 Truncal ataxia Instability or lack of coordination of central trunk muscles 0002078 Showing of 35 | Last updated: 3/1
[rarediseases.info.nih.gov]
Intention tremor 0002080 Nonprogressive 0003680 Pachygyria Fewer and broader ridges in brain 0001302 Pes planus Flat feet Flat foot [ more ] 0001763 Poor speech 0002465 Psychomotor
[rarediseases.info.nih.gov]
psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor
[rarediseases.oscar.ncsu.edu]
[…] syndrome,241410 TBCE151.60.990.98Kenny-Caffey syndrome, type 1244460 TBCK97.60.950.89Hypotonia, infantile, with psychomotor retardation and characteristic facies 3,6169244460
[qgenomics.com]
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual
[rarediseases.oscar.ncsu.edu]
[symptoma.com] psychiatrical Psychomotor Retardation It is characterized by rapid deterioration with psychomotor retardation, loss of speech, seizures, ataxia, blindness,
[symptoma.com]
It is characterized by rapid deterioration with psychomotor retardation, loss of speech, seizures, ataxia, blindness, hypotonia, microcephaly, and occasional convulsions.
[icd10data.com]
Seizures (6 patients) and psychomotor retardation (1 patient) were the initial symptoms in the INCL group. All the patients in the group of LINCL had the usual findings.
[scielo.br]
A 3-year-old girl was referred for evaluation of moderate psychomotor retardation and several behavioral problems including self-injuring behavior, hyperactivity, and sleep
[ncbi.nlm.nih.gov]
The central nervous system is affected and this may be shown by psychomotor retardation, intellective deficit, electroencephalographic alterations (reduced/missing REM phase
[ncbi.nlm.nih.gov]
[…] and growth retardation, and a 24-hour sleep disturbance.
[ncbi.nlm.nih.gov]
[…] depression major depressive disorder characterized by signs and symptoms of psychomotor retardation, such as burdened movements and slowed, toneless speech. re·ac·tive de
[medical-dictionary.thefreedictionary.com]
“A patient who has psychomotor retardation, hypersomnia, and gaining weight is scored as having identical symptoms as another who is agitated, sleeping badly, and has weight
[theatlantic.com]
It is often identified with a specific symptom complex—psychomotor retardation, early morning awakening, weight loss, excessive guilt, and lack of reactivity to the environment—that
[medical-dictionary.thefreedictionary.com]
psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor
[rarediseases.oscar.ncsu.edu]
The overall risk of psychomotor retardation is high, but 34 of our 113 patients had an IQ greater than 70.
[jamanetwork.com]
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual
[rarediseases.oscar.ncsu.edu]
The clinical picture varies from patients presenting with mild psychomotor retardation to those with severe metabolic decompensation with vomiting, dehydration, encephalopathy
[webmedcentral.com]
retardation 0025356 Seizures Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 Tachypnea Increased respiratory rate or depth of breathing
[rarediseases.info.nih.gov]
[…] count [ more ] 0001875 Osteoporosis 0000939 Pancreatitis Pancreatic inflammation 0001733 Pancytopenia Low blood cell count 0001876 Poor appetite Decreased appetite 0004396 Psychomotor
[rarediseases.info.nih.gov]
Changes in Activity or Energy Level Physical Changes Caused by Depression Unexplained aches and pains Weight loss or gain Decreased or increased appetite Psychomotor agitation
[verywell.com]
This is called psychomotor retardation.
[health.com]
Psychomotor agitation or retardation nearly every day. Fatigue or loss of energy nearly every day.
[depression.org]
Axonic and synaptic changes in a case of psychomotor retardation: An electron microscopic study. J. Neuropath. exp.
[link.springer.com]
Axonic and synaptic changes in case of psychomotor retardation; an electron microscopic study. J. Neuropath. exp.
[springerlink.com]
The broad spectrum is completed by a very heterogeneous group of patients with various degrees of epilepsy/behavioural difficulties/psychomotor retardation (four patients)
[nature.com]
In CDG type IIc, patients present with moderate-to-severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties.
[accessanesthesiology.mhmedical.com]
CDG-Ic patients have moderate to severe psychomotor retardation, seizures, hypotonia, strabismus, and feeding difficulties.
[onlinelibrary.wiley.com]
CDG-IId was described in a patient with moderate psychomotor retardation and macrocephaly as well as myopathy.
[nature.com]
CDG-IId was described in a patient with moderate psychomotor retardation and macrocephaly as well as myopathy.
[nature.com]
Article CAS PubMed Google Scholar Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels R: Familial psychomotor retardation with markedly
[ojrd.biomedcentral.com]
Intellectual retardation is often overestimated because of dysarthria and motor difficulties. Psychomotor reeducation might improve quality of life.
[pubmed.ncbi.nlm.nih.gov]
[…] calcifications, extensor hypertonia, and progressive psychomotor retardation.
[cags.org.ae]
Medical Term Other Names Description Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development
[rarediseases.oscar.ncsu.edu]
fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation.
[doaj.org]
CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia
[reactome.org]
Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment
[checkorphan.org]
They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal
[ncbi.nlm.nih.gov]
retardation (a slowing of a person’s physical movements) for two months or more.
[psychcentral.com]
They may be despondent and despairing, feel excessive or inappropriate guilt, or have early morning awakenings, marked psychomotor retardation or agitation, and significant
[msdmanuals.com]
retardation by professionals) Fatigue, tiredness, or loss of energy nearly every day — even the smallest tasks, like dressing or washing, seem difficult to do and take longer
[psychcentral.com]
Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure
[jamanetwork.com]
Patients are normal in the first 2 or 3 months of life but then they develop failure to thrive, hypothermia, hypotonia, seizures, severe psychomotor retardation, and usually
[neuropathology-web.org]
These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition.
[pediatricneurosciences.com]
retardation, dysmorphic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation.
[genome.jp]
The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia
[ncbi.nlm.nih.gov]
Arima syndrome Supergrp Joubert syndrome and related disorders [DS:H00530] Description Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor
[genome.jp]
Symptoms include optic atrophy, nystagmus, cerebellar ataxia, seizures, spasticity, psychomotor retardation, leukoencephalopathy and global developmental delay.
[en.wikipedia.org]
The boy had psychomotor retardation from early in life and developed epilepsy at age 4 years.
[ncbi.nlm.nih.gov]
He had psychomotor retardation from early in life and developed epilepsy at age 4 years.
[ncbi.nlm.nih.gov]
retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular
[csbg.cnb.csic.es]
retardation has never been described before.
[gooa.las.ac.cn]
Mental retardation may appear, but psychomotor development may also be normal. ***See our SMOC1 mutation database!
[bredagenetics.com]
These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since
[ncbi.nlm.nih.gov]
These findings suggested that the severe dystonic features were caused by abnormal function of bilateral basal ganglia and severe psychomotor retardation could be due to abnormalities
[ncbi.nlm.nih.gov]
