hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia.
[bio2rdf.org]
Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures.
[iamg.in]
The clinical picture evolved to a spastic tetraparesis with axial hypotonia and limbs dystonic movement disorder. He had dysphagia and severe intellectual disability.
[omicsonline.org]
Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia, and limb
[ncbi.nlm.nih.gov]
The presentation of symptoms is variable and there are variable degrees of severity Neonatal Period Feeding difficulties Autonomic dysfunction Hypotonia Motor symptoms Axial
[aadcresearch.org]
hypotonia (decreased tone or floppy - trunk, head and limbs) Limb hypertonia (increased tone to the limbs) Fluctuating limb tone Hypokinesia (decreased spontaneous movements
[aadcresearch.org]
hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia.
[rarediseases.info.nih.gov]
[…] characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial
[rarediseases.info.nih.gov]
hypotonia 0009062 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Nystagmus Involuntary,
[rarediseases.info.nih.gov]
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control
[cloud-clone.com]
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.
[uniprot.org]
[…] hypertonia and spasticity – 4 years HM with WMI 7 7 44 52 Abnormal signal putamen and caudate – Gastrointestinal dysmotility Yes, axial hypotonia Axial hypotonia 54 months
[academic.oup.com]
Eventually, children develop major axial hypotonia, pyramidal and extrapyramidal signs with athetotic movements and strabismus.
[books.google.de]
hypotonia 19 months – Normal MRS Hypsarrhythmia (6 months) 2 10 52 12 Atrophy – Gastrointestinal dysmotility No Axial hypotonia 41 months – HM with WMI Movement disorder
[academic.oup.com]
Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.
[ghr.nlm.nih.gov]
Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement
[ncbi.nlm.nih.gov]
Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy.
[diseaseinfosearch.org]
The most common symptoms are psychomotor development retardation, axial hypotonia, dystonia, muscle weakness and oculogyric crises.
[tidsskriftet.no]
CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well
[genecards.org]
In addition, infants are ataxic, exhibit axial hypotonia, and have skeletal abnormalities consisting of long limbs and short torsos.
[themedicalbiochemistrypage.org]
Patients have frequent seizures, psychomotor retardation that is milder than in CDG-Ia, pronounced axial hypotonia, and strabismus.
[themedicalbiochemistrypage.org]
CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well
[genecards.org]
In addition, infants are ataxic, exhibit axial hypotonia, and have skeletal abnormalities consisting of long limbs and short torsos.
[themedicalbiochemistrypage.org]
Severe axial ataxia and hypotonia precluded unaided walking. The few single words already gained were lost from the third year of life ( 49, 50 ).
[nature.com]
hypotonia Absence of olfactory bulbs (in some patients) Brain hypomyelination Delayed psychomotor development A subset of patients have neurologic abnormalities Mental retardation
[mnglabs.com]
Variable phenotype - Incomplete penetrance of some features Molecular Basis - Caused by mutation in the SRY-box-10 gene (SOX10, 602229.0005 ) Neurologic Central Nervous System Axial
[mnglabs.com]
In severe cases, children fail to achieve motor milestones and linguistic development, and show profound axial hypotonia.
[clinicalgate.com]
These infants show axial hypotonia with difficult head control, titubation, exaggerated tendon reflexes, and a combination of ataxia and extrapyramidal features.
[clinicalgate.com]
hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly.
[genecards.org]
HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial
[genecards.org]
Neurological examination revealed axial hypotonia, severe spastic tetraparesis and extrapyramidal syndrome with numerous opisthotonos episodes daily.
[kundoc.com]
[…] hand Hypertrophic cardiomyopathy Weakness of the intrinsic hand muscles Hepatic steatosis Limb joint contracture Hypoventilation Shoulder girdle muscle weakness Central hypotonia
[mendelian.co]
Abnormal posturing Biventricular hypertrophy Reduced ejection fraction Persistent lactic acidosis Hand muscle weakness Delayed speech and language development Wide nasal bridge Axial
[mendelian.co]
Fig. 3 a - c, Axial T2-weighted MR images of a 5-day-old male term neonate with genetically confirmed Pelizaeus-Merzbacher disease presenting with marked muscular hypotonia
[cerebellumandataxias.biomedcentral.com]
In two generations its presence was detected in the hemizygous state in two males with neurological abnormalities including mental retardation, axial hypotonia, hypertonia
[ncbi.nlm.nih.gov]
This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile.
[ncbi.nlm.nih.gov]
He presents mental retardation, axial hypotonia, hypertonia of arms and legs, paroxysmal dyskinesias, seizures.
[ncbi.nlm.nih.gov]
R184C ( c.550C>T ) 13 F 4 months 11 months Regression, mild axial hypotonia, hypertonia of the extremities, opisthotonus, ↑ CSF protein, abnormal MRI – 0.0 380 p.I250T (c.749T
[ncbi.nlm.nih.gov]
hypotonia, ↑CSF protein level – 0.0 – – 4 M 6 months 8 months Psychomotor regression, hypotonia, ↑CSF protein level, normal brain CT scan – 0.0 34 – 5 M 5 months 5.5 months
[ncbi.nlm.nih.gov]
[…] hom p.R184C ( c.550C>T ) 2 M Unknown 4 months Seizures, irritability, feeding difficulties ↑CSF protein level – 0.03 23 – 3 F 6 months 10 months Psychomotor retardation, axial
[ncbi.nlm.nih.gov]
They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties
[ncbi.nlm.nih.gov]
Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A).
[ncbi.nlm.nih.gov]
Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities.
[neurology.org]
Abstract A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis.
[ncbi.nlm.nih.gov]
RESULTS: All patients had axial hypotonia and tachypnea during the first hours of life. The initial level of consciousness was preserved in most patients.
[ncbi.nlm.nih.gov]
Neonates have axial hypotonia and tachypnoea during the first hours of life. [ 4 ] Other features which may be seen with this disorder include: Failure to thrive.
[patient.info]
Axial hypotonia, impaired upward saccades, and intellectual disability were variable features. The p.R418G and p.R418Q mutation patients had a milder phenotype.
[foundationdystoniaresearch.org]
In more severe patients axial hypotonia, limb hypertonia, paroxysmal nocturnal or diurnal dyskynesia and delayed motor development may also appear.
[bredagenetics.com]
It has also been reported that disturbed sleep and axial hypotonia are frequently found in ADCY5 cases [ 5, 12 ].
[link.springer.com]
At birth, clinical examination revealed a systolic cardiac murmur, an axial hypotonia, linear cutaneous erythematous lesions of the face and the neck typical of the microphthalmia
[revespcardiol.org]
Manifestations include hyperammonemia with irritability, lethargy, headache, seizures, confusion, avoidance of high-protein meals, axial hypotonia and cognitive disability
[orpha.net]
Their clinical picture involved liver dysfunction in the neonatal period, psychomotor retardation, microcephaly, seizures, axial hypotonia, feeding difficulties, and hepatomegaly
[ncbi.nlm.nih.gov]
The clinical findings include axial hypotonia, psychomotor retardation, dysmorphic features, feeding problems, hepatomegaly, coagulopathy, and recurrent infections (Table
[ncbi.nlm.nih.gov]
The clinical features of our patients were similar including axial hypotonia, psychomotor retardation, dysmorphic features, feeding problems, hepatomegaly, coagulopathy, and
[ncbi.nlm.nih.gov]
[…] variability of its clinical manifestations, which may include feeding problems, vomiting and diarrhea, with delayed development in infants, and severe encephalopathy with axial
[tellmegen.com]
hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, episodes similar to stroke, and retinitis pigmentosa in infancy
[tellmegen.com]
hypotonia, spastic paraparesis, severe developmental delay, kyphoscoliosis, microcephaly, intellectual deficit, and absence of speech.
[rarediseases.info.nih.gov]
[…] well as a syndrome due to mutations in the AIMP1 gene, encoding the aminoacyl tRNA synthetase complex-interacting multifunctional protein 1, and characterized by nystagmus, axial
[rarediseases.info.nih.gov]
Other clinical features include axial hypotonia with no head control until late in childhood.
[accessanesthesiology.mhmedical.com]
Characterized by hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. The life expectancy is limited to about 30 months of age.
[accessanesthesiology.mhmedical.com]
[…] variability of its clinical manifestations, which may include feeding problems, vomiting and diarrhea, with delayed development in infants, and severe encephalopathy with axial
[tellmegen.com]
hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, episodes similar to stroke, and retinitis pigmentosa in infancy
[tellmegen.com]
[…] variability of its clinical manifestations, which may include feeding problems, vomiting and diarrhea, with delayed development in infants, and severe encephalopathy with axial
[tellmegen.com]
hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, episodes similar to stroke, and retinitis pigmentosa in infancy
[tellmegen.com]
