Pineal Gland Cyst
Chemotherapy has been used to delay radiation therapy in very young children, for whom the long-term neurocognitive and developmental side effects of craniospinal irradiation[wikidoc.org]
Duchenne Muscular Dystrophy
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]
Additional early signs and symptoms include: Developmental delay Muscle weakness Clumsiness Waddling gait Difficulty or inability to perform activities such as climbing stairs[pfizer.com]
Juvenile Myoclonic Epilepsy
A 21-year old man with marked developmental delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of[ncbi.nlm.nih.gov]
delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of consciousness, that had begun 2 years before[jle.com]
Key words: juvenile myoclonic epilepsy, severe mental retardation, brain abnormalities, neuroradiology Page(s) : 27-32 Published in: 2000 A 21-year old man with marked developmental[jle.com]
Dravet Syndrome
He presented with intractable and recurrent convulsions, global developmental delay and microcephaly.[ncbi.nlm.nih.gov]
A clear developmental delay begun before the age of 2 years in both children and the cognitive profile continued to worse, with some differences between different domains,[ncbi.nlm.nih.gov]
delay.[ncbi.nlm.nih.gov]
Growth Hormone Deficiency
The Xia-Gibbs syndrome patients exhibited short stature, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features.[ncbi.nlm.nih.gov]
delay.[ncbi.nlm.nih.gov]
The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities.[ncbi.nlm.nih.gov]
Mucopolysaccharidosis
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]
Mucolipidosis
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]
delay and other structural abnormalities.[ncbi.nlm.nih.gov]
Mucopolysaccharidosis 2
delay, and intellectual disability.[symptoma.com]
He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org]
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]
Mandibulofacial Dysostosis
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]
Tuberous Sclerosis
In the following months the patient developed clinically a typical neurological phenotype of LND and TSC with seizures, severe dystonia and developmental delay.[ncbi.nlm.nih.gov]
A logistic model looking at the individual impact of infantile spasms, seizure frequency, and age of seizure onset as predictors of developmental delay revealed that age of[ncbi.nlm.nih.gov]
A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease.[dbpedia.org]