Medium Chain Acyl-Coa Dehydrogenase Deficiency Cachexia ORPHA:42 Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type Microphthalmia ORPHA:2728 Hypotonia-Speech Impairment-Severe
[mousephenotype.org]
Cognitive Delay Syndrome Severe failure to thrive, Cachexia ORPHA:371364 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Microphthalmia, Phthisis bulbi, Buphthalmos
[mousephenotype.org]
BACKGROUND: Cognitive impairment may be part of the endophenotype of bipolar disorder (BP), but little is known about patterns and severity of impairment in BP subgroups and
[ncbi.nlm.nih.gov]
Our study also provides evidence that cognitive deficits are more severe and pervasive in BP II patients, suggesting that recurrent depressive episodes, rather than mania,
[ncbi.nlm.nih.gov]
RESULTS: BP patients were impaired compared to published norms on memory, naming and executive measures (Binomial Single Proportion tests, p CONCLUSIONS: We confirm cognitive impairment
[ncbi.nlm.nih.gov]
100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of Glycosylation
[igenomix.es]
100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of Glycosylation
[igenomix.es]
They denied consanguinity, with an otherwise noncontributory family history without known birth defects, severe cognitive impairment, genetic conditions, recurrent miscarriages
[ncbi.nlm.nih.gov]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
Other behavioral characteristics included mild psychomotor disabilities and lack of symbolic skills, indicating severe cognitive impairment.
[ncbi.nlm.nih.gov]
99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 304 of 339
[igenomix.es]
More severe cognitive impairment has been observed in individuals with Seckel syndrome and in those with isolated microcephaly with brain malformations 3.
[centogene.com]
In MCCRP, microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence.
[genome.jp]
Cognitive impairment is present in a majority of persons with microcephaly and it ranges from mild to moderate without major motor delay.
[centogene.com]
Of these two, one was severely cognitively impaired and physically disabled. The status of the other was unreported.
[checkorphan.org]
100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of Glycosylation
[igenomix.es]
100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of Glycosylation
[igenomix.es]
100 63 of 63 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe
[igenomix.es]
Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEXMIF X-linked Mental Retardation X,XR,XD,G 99.74 NA of NA NGLY1 Congenital Disorder Of Glycosylation
[igenomix.es]
OMIM : 57 CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations
[malacards.org]
Definition A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body
[uniprot.org]
It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus.
[genome.jp]
All affected individuals develop severe cognitive impairment and spastic quadriplegia that parallels progressive degeneration of the forebrain and cerebellum.
[ncbi.nlm.nih.gov]
The severity of cognitive and motor impairment is consistent with the catastrophic degeneration of the cortical and subcortical structures in virtually all affected individuals
[ncbi.nlm.nih.gov]
Gross and fine motor development are severely impaired, with most affected individuals unable to maintain head or truncal posture.
[ncbi.nlm.nih.gov]
cognitive impairment that may lead to dementia.
[orpha.net]
Wheelchair‐bound Unable to walk without support Not described Not described Impairment and falls, but walk without support Cognitive impairement Severe Severe Severe Moderate
[onlinelibrary.wiley.com]
[…] genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe
[orpha.net]
Abstract Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment.
[pubmed.ncbi.nlm.nih.gov]
While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also been reported.
[pubmed.ncbi.nlm.nih.gov]
MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.
[malacards.org]
From UniProt : Mental retardation, autosomal recessive 44 (MRT44): A disorder characterized by significantly below average general intellectual functioning associated with impairments
[ghr.nlm.nih.gov]
Mental retardation, autosomal recessive 44 (MRT44) [MIM:615942]: A disorder characterized by significantly below average general intellectual functioning associated with impairments
[genecards.org]
