He presented with intractable and recurrent convulsions, global developmental delay and microcephaly.
[ncbi.nlm.nih.gov]
Developmental delays appear to different degrees in the majority of people with Dravet syndrome by the age of 2 and ataxia or abnormal gait is common.
[disabled-world.com]
By age 2, developmental delay is often apparent, followed by cognitive plateauing and impairment.
[orpha.net]
He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.
[ncbi.nlm.nih.gov]
Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death
[ncbi.nlm.nih.gov]
delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.
[ncbi.nlm.nih.gov]
delay, and intellectual disability.
[symptoma.com]
In addition to developing somatic symptoms, patients having the neuronopathic form of the disease also display developmental delay and cognitive impairment in early childhood
[touchneurology.com]
delay. 7 Hunter syndrome is associated with multiple somatic symptoms affecting nearly every organ, including the cardiovascular, respiratory, gastrointestinal and endocrine
[touchneurology.com]
Usually, the disease manifests with severe developmental delay, as well as motor and cognitive problems.
[aadcnews.com]
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual
[rarediseases.oscar.ncsu.edu]
It results in severe motor and autonomic dysfunction, developmental delay and premature death.1–5 AADC deficiency can manifest with a broad spectrum of symptoms, some of the
[aadcinsights.eu]
Stiff skin Indurated skin An induration (hardening) of the skin Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack
[rarediseases.oscar.ncsu.edu]
Both surviving children had severe global developmental delay at 2 months of age.
[ncbi.nlm.nih.gov]
BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay.
[ncbi.nlm.nih.gov]
The syndrome is characterized by the following clinical features: Short stature Developmental delay Congenital heart disease Skeletal anomalies Cleft Palate Distinct facial
[immunodeficiencysearch.com]
Kabuki syndrome is a rare genetic disorder characterized by congenital anomalies and developmental delay.
[ncbi.nlm.nih.gov]
Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic
[ncbi.nlm.nih.gov]
The condition can manifest in many ways, but the effects that most strongly impact quality of life are seizures, developmental delay, intellectual disability, and autism.
[uabmedicine.org]
A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease.
[dbpedia.org]
The brain abnormalities of tuberous sclerosis are mainly benign cortical tumors (tubers) that cause seizures, developmental delay, and mental retardation.
[medicinenet.com]
See a provider if your child has signs of failure-to-thrive or developmental delays. A low-protein diet can help reduce the number of acidemia attacks.
[nlm.nih.gov]
Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive.
[ncbi.nlm.nih.gov]
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay.
[ncbi.nlm.nih.gov]
Dietary compliance is necessary to prevent developmental delay and neurological symptoms.
[patient.info]
Later in infancy or childhood, developmental delays are noted.
[secure.ssa.gov]
Prognosis [ 2 ] Infants with untreated classic MSUD show significant developmental delay and die within the first months of life.
[patient.info]
Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays.
[integratedgenetics.com]
Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.
[symptoma.com]
Those suffering from the most severe form of the disease, which may be referred to as Hurler syndrome, also show developmental delays and intellectual disability.
[symptoma.com]
She did have a mild developmental delay according to her family. At presentation, she was afebrile, normotensive, non-tachypnic.
[shmabstracts.org]
delay encephalopathy feeding, protein aversion or intolerance liver failure liver involvement or dysfunction seizures spastic diplegia/quadriplegia/tetraplegia spastic paraplegia
[metagene.de]
Affected individuals may present with: Chronic neurocognitive deficits (including developmental delay, ataxia, spasticity, learning disabilities, cognitive deficits and/or
[hero.epa.gov]
Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism
[ajol.info]
Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy
[rarediseases.org]
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual
[rarediseases.oscar.ncsu.edu]
In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted.
[ncbi.nlm.nih.gov]
Prognosis Worsening intellectual disability and developmental delay in infancy and childhood if untreated.
[patient.info]
When the disease has progressed beyond early developmental stage without detection, there may be delayed mental and social developments.
[news-medical.net]
It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
[icd10data.com]
Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays.
[integratedgenetics.com]
Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances.
[genedx.com]
delay.[1] Coagulation defects, cryptorchidism in men, and lymphatic dysplasia are not uncommon.
[bestpractice.bmj.com]
This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality.
[ncbi.nlm.nih.gov]
Developmental delay of varying degrees, but usually mild. In males, undescended testes (cryptorchidism). How is Noonan syndrome diagnosed?
[genome.gov]
Cataracts Clouding of the corneas Developmental delay Enlarged spleen and liver Joint stiffness Hearing loss Heart and lung complications Short stature How many people have
[ultrarareadvocacy.com]
In more severe cases, there may be developmental delay. The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema).
[ultragenyx.com]
He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.
[ggc.org]
Delay CNS Tumor with Neuro Developmental Delay Cockayne syndrome Coffin Lowry syndrome Coffin Siris sydrome Cohen syndrome Cone Dystrophy Congenital Cytomegalovirus Congenital
[de.slideshare.net]
Learn about child developmental delays: Causes, Symptoms, and Therapies. Don't wait years for a diagnosis. Act now and save valuable time. Start Here!
[fdna.health]
MARINESCO-SJOGREN SYNDROME; MSS Is also known as ; Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Short stature
[mendelian.co]
Failure to thrive, growth retardation, developmental delay, and intellectual disability may ensue in patients who don't receive timely treatment with the pyrimidine precursor
[symptoma.com]
[…] abnormalities such as decreased white blood cell count, urinary tract obstruction due to the formation of orotic acid crystals in the urinary tract, failure to thrive, and developmental
[specialtypharmacytimes.com]
A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism.
[ncbi.nlm.nih.gov]
A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem.
[ncbi.nlm.nih.gov]
One of these infants had developmental delay despite rapid normalization of thyroid function postnatally.
[ncbi.nlm.nih.gov]
We show that developmental ethanol exposure causes reduced viability, developmental delay and reduced adult body size.
[ncbi.nlm.nih.gov]
DISCUSSION: The results demonstrate that children with FAS are as developmental delayed as PTBc+children.
[ncbi.nlm.nih.gov]
This article reports a case of a 9-year-old adopted girl with developmental delay, mildly dysmorphic facial features, and behavioral and cognitive abnormalities.
[ncbi.nlm.nih.gov]
Developmental delays may also be noted and may present as growth failure, mental retardation, or motor disorders such as ocular motor dyspraxia.
[symptoma.com]
Pyrimidine 5′-nucleotidase superactivity has been described in four unrelated patients with developmental delay and neurologic abnormalities.
[ommbid.mhmedical.com]
CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients.
[ncbi.nlm.nih.gov]
He showed developmental delay and had suffered recurrent seizures beginning at 21months of age.
[ncbi.nlm.nih.gov]
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic
[ncbi.nlm.nih.gov]
Previously existing developmental delays and visual impairment, however, could not be reversed.
[symptoma.com]
delay Hydrocephalus Hypocalcemic seizures Motor delay Optic nerve compression Abnormality of the respiratory system Recurrent pneumonia Growth abnormality Growth delay IMPORTANT
[ncbi.nlm.nih.gov]
Patients are unlikely to compensate for developmental delays and improvements in vision are not to be expected.
[symptoma.com]
These disorders, although rare, should be considered in the approach to a child with dysmorphism, developmental delay, skeletal deformities, and visceromegaly.
[ncbi.nlm.nih.gov]
delay and skeletal involvement (dysostosis multiplex).
[ncbi.nlm.nih.gov]
The extent of the patients' developmental delay before HSCT varied over a wide range.
[ncbi.nlm.nih.gov]
delay with early hypotonia, psychomotor delay, and typical facial appearance.
[moh-it.pure.elsevier.com]
Aradhya S, Manning MA, Splendore A, Cherry AM: Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental
[karger.com]
delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food.
[smpdb.ca]
Examination revealed pale child having firm and nontender hepatosplenomegaly (Liver: 8 cm below right costal margin and spleen: 5 cm in long axis) with no lymphadenopathy or developmental
[casereports.in]
What are some of the symptoms of developmental delay? You can identify developmental delay by the following symptoms.
[humanbrainfacts.org]
delay www.ntsad.org Refum Disease, classic Phytanic acid oxidase AR childhood - adulthood normal intelligence www.ntsad.org Yes* = if affected family member is found.
[ntsad.org]
Babies with this condition have severe developmental delay, hypotonia, and failure to thrive.
[egl-eurofins.com]
delay and acanthosis nigricans).
[ncbi.nlm.nih.gov]
シソーラス検索結果 同義語（異表記）： Achondroplasia chondrodysplasia SADDAN SADDAN Dysplasia Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans Skeleton-Skin-Brain Syndrome
[lsd-project.jp]
delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD).
[ncbi.nlm.nih.gov]
Tools and Resources for Patients and Families Does My Child Have Physical Developmental Delays?
[aap.org]
Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf
[ncbi.nlm.nih.gov]
The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures.
[ncbi.nlm.nih.gov]
It is typically brought to light after a child begins exhibiting developmental delays and the parent seeks medical care.
[neurosurgerycnj.com]
Developmental delays may require further medical follow up for underlying problems.
[web.archive.org]
In infants and older children born with this condition, symptoms may include: Rapid, back and forth, eye movement Developmental delays Poor feeding and swallowing Stiffness
[urmc.rochester.edu]
