Infantile Dystonia - Parkinsonism
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]
X-Linked Intellectual Disability Type Cantagrel
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.[uniprot.org]
Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control[cloud-clone.com]
Early Infantile Epileptic Encephalopathy 25
Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis.[uniprot.org]
Malignant Migrating Partial Seizures of Infancy
Eventually, children develop major axial hypotonia, pyramidal and extrapyramidal signs with athetotic movements and strabismus.[books.google.de]
Aromatic L-Amino Acid Decarboxylase Deficiency
RESULTS: Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia,[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]
Warburg Micro Syndrome 3
hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia.[bio2rdf.org]
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]
Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures.[iamg.in]
Waardenburg Syndrome Type 2E
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]
Atypical Phenylketonuria
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]
Congenital Disorder of Glycosylation Type 2J
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]
Congenital Disorder of Glycosylation Type 1D
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]