Abstract Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures [wwww.unboundmedicine.com]

Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as [pesquisa.bvsalud.org]

congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. [paper.medlive.cn]

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) Multiple Lentigines syndrome (formerly called LEOPARD syndrome). [babygene.co.il]

congenital anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial dysfunctions syndrome type 3 Multiple sulfatase deficiency Multiple system atrophy Multiple system atrophy, cerebellar [se-atlas.de]

In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. EEG recordings showed several seizure types, including hypsarithmia and multifocal epileptic activity (de Koning et al. 2002 ). [link.springer.com]

difficulties, and vomiting [6]. [graphyonline.com]

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding [se-atlas.de]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. [books.google.com]

Weakness Mild Proximal 2nd wind phenomenon Laboratory Serum CK: Mildly high at rest; 10x to 20x after exercise EMG: Myopathic Exercise test: Lactate rise normal; Ammonia rise 4x normal Muscle biopsy Subsarcolemmal & Sarcoplasmic glycogen accumulation [neuromuscular.wustl.edu]

In addition, he had generalised hyperlaxity of large and small joints and striae rubra on his abdomen and upper legs. His cranial MRI revealed no abnormalities. [link.springer.com]

[…] dystrophy due to LMNA mutation Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1B Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with hyperlaxity [se-atlas.de]

Individuals with the more severe infantile onset form may have small head size identifiable by ultrasound during pregnancy. They also typically have recurrent seizures and psychomotor delays within the first year of life. [nxgenmdx.com]

Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). [ghr.nlm.nih.gov]

Patients with the infantile phenotype presents with (congenital) microcephaly, intractable seizures and severe psychomotor retardation. [treatable-id.org]

Abstract Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures [wwww.unboundmedicine.com]

Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as [pesquisa.bvsalud.org]

Get Update Overview Phosphoglycerate dehydrogenase deficiency is an autosomal recessive inborn error of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures (summary by {3:Jaeken et al., 1996}). [diseaseinfosearch.org]

Finally, a severe spastic quadriplegia becomes evident during the first years of life. In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. [link.springer.com]

The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. [nature.com]

quadriplegia cerebral palsy 1 GNS mucopolysaccharidosis type IIID ( MPS IIID or Sanfilippo D) GPHN molybdenum cofactor deficiency; autosomal dominant early infantile epileptic encephalopathy HEXA hexosaminidase A ( HEXA ) deficiency, also known as Tay-Sachs [invitae.com]

quadriplegia syndrome Congenital insensitivity to pain with hyperhidrosis Congenital intrauterine infection-like syndrome Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lethal myopathy, Compton-North type Congenital microcephaly-severe [se-atlas.de]

Finally, a severe spastic quadriplegia becomes evident during the first years of life. In addition, the patients were irritable, hypertonic, had feeding difficulties and appeared to be “unhappy” infants. [link.springer.com]

The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. [nature.com]

Woodhouse-Sakati syndrome ( WSS ) DDC aromatic L-amino acid decarboxylase deficiency FA2H hereditary spastic paraplegia 35 FTL Neurodegeneration Brain Iron Accumulation 3 (NBIA3); hereditary hyperferritinemia-cataract syndrome; L-ferritin deficiency GAD1 spastic quadriplegia [invitae.com]

Congenital fibrosis of extraocular muscles Congenital heart defect-round face-developmental delay syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hydrocephalus Congenital ichthyosis-intellectual disability-spastic quadriplegia [se-atlas.de]

He visits a secondary school for children with learning difficulties and is actively involved in sports. At the time of diagnosis he was 16 years old and demonstrated hyperactive behaviour and mild developmental delay with an IQ of 49. [link.springer.com]

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain. 2013; 136(Pt 10):3085-95. [invitae.com]

difficulties syndrome Pure hereditary spastic paraplegia Pure or complex X-linked spastic paraplegia Pure or complex autosomal dominant spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia [se-atlas.de]

Without early treatment, seizures may progress to tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; or drop attacks, which are sudden episodes [ghr.nlm.nih.gov]

His neurological exam was unremarkable except for a subtle bilateral ankle clonus. In addition, he had generalised hyperlaxity of large and small joints and striae rubra on his abdomen and upper legs. His cranial MRI revealed no abnormalities. [link.springer.com]

EEG recordings showed several seizure types, including hypsarithmia and multifocal epileptic activity (de Koning et al. 2002 ). Cranial MRI scans showed a striking absence of white matter volume and hypomyelination (de Koning et al. 2000 ). [link.springer.com]

At the age of nine years he presented with absence seizures (complex typical absences) and his EEG recording showed bilateral synchronous spike-wave complexes, which were enhanced after hyperventilation with typical 3 Hz spike wave complexes. [link.springer.com]