hypotonia, infantile, with psychomotor retardation and characteristic facies 3
A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
Also known as: IHPRF3, TBCK ID-syndrome, TBCK syndrome, TBCK-related encephalopathy, hypotonia, infantile, with psychomotor retardation and characteristic facies 3.
Category: General
Symptoms associated with hypotonia, infantile, with psychomotor retardation and characteristic facies 3
The following symptoms have been associated with hypotonia, infantile, with psychomotor retardation and characteristic facies 3 in medical literature. Not everyone experiences the same symptoms.
Axial muscle weakness
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)....
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Healthcare providers may order these tests when evaluating hypotonia, infantile, with psychomotor retardation and characteristic facies 3. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with hypotonia, infantile, with psychomotor retardation and characteristic facies 3, which is why a clinical evaluation is important.
Developmental and epileptic encephalopathy 122
Developmental and epileptic encephalopathy 122 is a medical condition that may be associated with various symp...
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Xia-Gibbs syndrome
Xia-Gibbs syndrome is a medical condition that may be associated with various symptoms and signs....
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is hypotonia, infantile, with psychomotor retardation and characteristic facies 3?
hypotonia, infantile, with psychomotor retardation and characteristic facies 3 is a health condition described in medical literature. A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.
What are the symptoms of hypotonia, infantile, with psychomotor retardation and characteristic facies 3?
hypotonia, infantile, with psychomotor retardation and characteristic facies 3 is associated with 7 symptoms in the medical literature we index, including Axial muscle weakness, Bilateral tonic-clonic seizure with focal onset, Deeply set eye, Hearing impairment, Limb muscle weakness, Seizure. Symptoms vary widely between individuals.
How is hypotonia, infantile, with psychomotor retardation and characteristic facies 3 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with hypotonia, infantile, with psychomotor retardation and characteristic facies 3 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have hypotonia, infantile, with psychomotor retardation and characteristic facies 3, please discuss your symptoms with a qualified healthcare provider.