The medical literature describes Hurler disease as a condition with very rapid disease progression, developmental delay, very severe physical problems, and early death.
[mps1disease.com]
Hurler Syndrome The most severe form of MPS I is characterized by progressive developmental delay and severe progressive physical problems.
[centogene.com]
Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress).
[icdlist.com]
[…] disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may
[orpha.net]
Homepage Rare diseases Search Search for a rare disease Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Disease definition A rare neurometabolic
[orpha.net]
[…] be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed
[orpha.net]
References Berent SL, Radin NS (1981) β-Glucosidase activator protein from bovine spleen (“coglucosidase”). Arch Biochem Biophys 208: 248–260 PubMed Google Scholar Berent SL, Radin NS (1981) Mechanism of action of glucocerebrosidase by co-β-glucosidase (glucosidase activator protein). Biochim Biophys Acta[…]
[link.springer.com]
[…] speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in
[en.wikipedia.org]
[…] microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam neurodegenerative disease PCH2B 612389 TSEN2
[en.wikipedia.org]
[…] microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent
[en.wikipedia.org]
[…] speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in
[en.wikipedia.org]
[…] microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam neurodegenerative disease PCH2B 612389 TSEN2
[en.wikipedia.org]
[…] microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent
[en.wikipedia.org]
[…] microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Cerebral atrophy Global developmental delay Hyperreflexia Hypoplasia of the brainstem
[ncbi.nlm.nih.gov]
Long philtrum Abnormality of the eye Optic atrophy Proptosis Abnormality of the musculoskeletal system Axial hypotonia Brachycephaly Neonatal hypotonia Poor head control Progressive
[ncbi.nlm.nih.gov]
Delay, Progressive Ataxia, and Elevated Glutamine GLB026 GDPAG Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome GLB028
[malacards.org]
Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies GLB021 GDACCF Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLB024 GLOW Global Developmental
[malacards.org]
Developmental Delay with or Without Impaired Intellectual Development GLB025 GDDI Global Developmental Delay with Speech and Behavioral Abnormalities GLB029 GDSBA Global Developmental
[malacards.org]
A female patient presented with significant developmental delay in early childhood and subsequently demonstrated neurodegeneration with progressive dystonia and dementia in
[ncbi.nlm.nih.gov]
Could also be an overall developmental delay Cognitive (mental) decline Can progress to dementia in adulthood Parkinsonism (symptoms similar to Parkinson’s disease) Typically
[nbiacure.org]
Conclusions: BPAN is an extremely rare disease characterized by global developmental delay followed in young adulthood by progressive dystonia-parkinsonism.
[neurology.org]
with congenital cataract, hearing loss, and developmental delay,612718 GFER91.80.970.9Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
delay,613076 GFM1108.10.980.94Combined oxidative phosphorylation deficiency 1609060 GFM2138.10.980.94No OMIM phenotype609060 GFM2138.10.980.94Leigh syndrome with arthrogryposis
[qgenomics.com]
601472 GARS147.80.990.97Neuropathy, distal hereditary motor, type VA,600794 GATM174.810.99Cerebral creatine deficiency syndrome 3612718 GFER91.80.970.9Myopathy, mitochondrial progressive
[qgenomics.com]
Myopathy, With Congenital Cataract, Hearing Loss, And Developmental Delay AR 99.89 6 of 6 GJA3 Zonular Pulverulent Cataract AD 95.63 35 of 45 GJA8 Zonular Pulverulent Cataract
[igenomix.es]
Recessive Congenital Cataract AR 99.98 20 of 20 GALK1 Galactokinase Deficiency AR 97.92 45 of 45 GCNT2 Cataract With Adult I Phenotype AD,AR 97.19 9 of 10 GFER Mitochondrial Progressive
[igenomix.es]
delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors
[findexpertmd.com]
N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental
[findexpertmd.com]
Similar articles A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia
[pubmed.ncbi.nlm.nih.gov]
[…] ability to walk Depression Developmental regression Generalized non-motor (absence) seizure Global developmental delay Hostility Inability to walk Intellectual disability
[ncbi.nlm.nih.gov]
severe Lower limb spasticity Motor stereotypy Pain insensitivity Poor eye contact Progressive spasticity Repetitive compulsive behavior Seizure Severe global developmental
[ncbi.nlm.nih.gov]
delay Sleep disturbance Status epilepticus Tonic seizure Abnormality of the respiratory system Recurrent respiratory infections Ear malformation Low-set ears Macrotia Growth
[ncbi.nlm.nih.gov]
[…] speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in
[en.wikipedia.org]
Clinical features in these affected children include developmental delay, progressive microcephaly with brachycephaly and seizure in the first year, truncal hypotonia with
[rarediseases.org]
[…] microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam neurodegenerative disease PCH2B 612389 TSEN2
[en.wikipedia.org]
ICD-9: 272.7 ICD-10: E77.0 PROGRESSION Developmental delay and growth failure are the first signs of I Cell Disease, and present in the first year of life.
[secure.ssa.gov]
The most common features of the condition are developmental delay, coarse facial features, joint limitations, and skeletal abnormalities.
[throughthetulips.ca]
Clinically, mucolipidosis II (MLII) is characterized by severe developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.
[journals.plos.org]
with congenital cataract, hearing loss, and developmental delay,613094 GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
with congenital cataract, hearing loss, and developmental delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
delay,613076 GJA1Atrioventricular septal defect 3600309 GJA1Craniometaphyseal dysplasia, autosomal recessive,218400 GJA1Erythrokeratodermia variabilis et progressiva,133200
[qgenomics.com]
delay Hyporeflexia Parkinsonism Seizure Sensory ataxia Sensory axonal neuropathy Constitutional symptom Exercise intolerance Fatigue Myalgia Ear malformation Progressive
[ncbi.nlm.nih.gov]
[…] accumulations of abnormally shaped mitochondria Abnormality of the nervous system Areflexia Cerebral atrophy Dementia Depression Dysarthria Dysphonia Gait disturbance Global developmental
[ncbi.nlm.nih.gov]
[…] ovarian insufficiency Abnormality of the musculoskeletal system Cytochrome C oxidase-negative muscle fibers EMG: myopathic abnormalities Multiple mitochondrial DNA deletions Progressive
[ncbi.nlm.nih.gov]
[…] microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Cerebral atrophy Global developmental delay Hyperreflexia Hypoplasia of the brainstem
[ncbi.nlm.nih.gov]
Long philtrum Abnormality of the eye Optic atrophy Proptosis Abnormality of the musculoskeletal system Axial hypotonia Brachycephaly Neonatal hypotonia Poor head control Progressive
[ncbi.nlm.nih.gov]
with congenital cataract, hearing loss, and developmental delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
delay, 613076 GJA1 Atrioventricular septal defect 3 600309 GJA1 Craniometaphyseal dysplasia, autosomal recessive, 218400 GJA1 Erythrokeratodermia variabilis et progressiva
[qgenomics.com]
118100 GDF6 Leber congenital amaurosis 17 615360 GDF6 Microphthalmia with coloboma 6 digenic, 613703 GDF6 Microphthalmia, isolated 4 613094 GFER Myopathy, mitochondrial progressive
[qgenomics.com]
MONDO:0030362 Aicardi-Goutieres syndrome 9 A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration.
[zenodo.org]
MONDO:0030361 Aicardi-Goutieres syndrome 8 A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature
[zenodo.org]
Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections
[zenodo.org]
with congenital cataract, hearing loss, and developmental delay,613094 GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
delay,613076 GJA1Atrioventricular septal defect 3600309 GJA1Craniometaphyseal dysplasia, autosomal recessive,218400 GJA1Erythrokeratodermia variabilis et progressiva,133200
[qgenomics.com]
[…] dominant,118100 GDF6Leber congenital amaurosis 17615360 GDF6Microphthalmia with coloboma 6 digenic,613703 GDF6Microphthalmia, isolated 4613094 GFERMyopathy, mitochondrial progressive
[qgenomics.com]
Myoclonic Epilepsy AD 99.87 10 of 10 KCNMA1 Cerebellar Atrophy, Developmental Delay, And Seizures, Epilepsy, Generalized Epilepsy And Paroxysmal Dyskinesia, Liang-Wang Syndrome
[igenomix.es]
Smith-Magenis Syndrome X,XR,XD,G 99.73 NA of NA KANSL1 Koolen-de Vries Syndrome AD 96.03 22 of 27 KCNA2 Early Infantile Epileptic Encephalopathy AD 99.86 23 of 23 KCNC1 Progressive
[igenomix.es]
[…] to thrive, and developmental delay.
[institutimagine.org]
Neuroimaging disclosed progressive changes in the basal ganglia and either brain stem or internal capsule.
[institutimagine.org]
Both presented with a progressive course of disease with encephalo(cardio)myopathic features including muscular hypotonia, cardiac hypertrophy, respiratory failure, failure
[institutimagine.org]
Myoclonic Epilepsy AD 99.87 10 of 10 KCNMA1 Cerebellar Atrophy, Developmental Delay, And Seizures, Epilepsy, Generalized Epilepsy And Paroxysmal Dyskinesia, Liang-Wang Syndrome
[igenomix.es]
Smith-Magenis Syndrome X,XR,XD,G 99.73 NA of NA KANSL1 Koolen-de Vries Syndrome AD 96.03 22 of 27 KCNA2 Early Infantile Epileptic Encephalopathy AD 99.86 23 of 23 KCNC1 Progressive
[igenomix.es]
[…] scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment.
[ncbi.nlm.nih.gov]
[…] scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment [Baumann et al 2012, Giunta et al 2018a].
[ncbi.nlm.nih.gov]
[…] short stature Primary skeletal involvement Dysplastic teeth Myopathic EDS (OMIM 616471) COL12A1 AD AR Congenital muscular hypotonia Motor developmental delay Soft, doughy
[ncbi.nlm.nih.gov]
[…] psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur
[x-mol.com]
She progressed with failure to thrive, severe delay of developmental milestones, axial hypotonia, spastic tetraparesis and dystonic movements.
[thieme-connect.com]
MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive
[x-mol.com]
with congenital cataract, hearing loss, and developmental delay,613094 GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
with congenital cataract, hearing loss, and developmental delay, 613094 GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental
[qgenomics.com]
delay,613076 GJA1Atrioventricular septal defect 3600309 GJA1Craniometaphyseal dysplasia, autosomal recessive,218400 GJA1Erythrokeratodermia variabilis et progressiva,133200
[qgenomics.com]
The medical literature describes Hurler disease as a condition with very rapid disease progression, developmental delay, very severe physical problems, and early death.
[mps1disease.com]
Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress).
[medlineplus.gov]
The medical literature describes Hurler-Scheie disease as a condition with rapid disease progression, little or no developmental delay, and symptom severity and mortality
[mps1disease.com]
[…] hearing loss Poor or reduced vision Normal intellect or mild developmental delays Radiographic findings Sclerosis of the cranium and skull base Sclerosis of lamellar and
[ncbi.nlm.nih.gov]
Learning problems are more common in surviving males than females, with approximately 80% of males having mild-to-moderate developmental delays [Holman et al 2011, Perdu et
[ncbi.nlm.nih.gov]
This can be progressive, and typically occurs in late adolescence and early adulthood. Cognition.
[ncbi.nlm.nih.gov]
Some people with PMD also experience developmental delays. PMD is progressive, meaning the symptoms worsen over time.
[my.clevelandclinic.org]
