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Leukoencephalopathy - Metaphyseal Chondrodysplasia Syndrome
sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487 15 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349 16 abnormal brainstem mri signal[malacards.org]
12 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079 13 enlargement of the wrists 59 32 frequent (33%) Frequent (79-30%) HP:0003020 14 babinski[malacards.org]
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Autosomal Recessive Spastic Paraplegia Type 27
sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487 4 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075 5 spastic paraplegia 59 32 hallmark[malacards.org]
There was hyperreflexia in both upper and lower limbs and spastic paraplegia with a bilateral Babinski sign.[journals.plos.org]
HPO Source Accession 1 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260 2 sensorineural hearing impairment 59 32 very rare (1%) Very rare ( HP:0000407 3 babinski[malacards.org]
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Behr Syndrome
sign).[the-medical-dictionary.com]
Unusual foot reflexes (a positive Babinski sign) may also be experienced by the patient when the sole is stimulated.[medigest.uk]
sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Dysmetria Lack of coordination of movement 0001310 Gait disturbance Abnormal gait Abnormal walk Impaired[rarediseases.info.nih.gov]
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Aromatic L-Amino Acid Decarboxylase Deficiency
When the neurotransmitters are not being produced correctly, there are problems with the nervous system. 0000271 Autosomal recessive inheritance 0000007 Babinski sign 0003487[rarediseases.info.nih.gov]
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Arnold Chiari Malformation
[…] of spinal cord compression such as the Babinski's sign, hemiparesis, muscle spasticity, and episodic urinary retention.[dynamicchiropractic.com]
[…] indicator of hydrocephalus due to blockage of cerebrospinal fluid flow by the Arnold-Chiari malformation), facial weakness, dysphonia, apnea, tongue atrophy, diplopia, and signs[dynamicchiropractic.com]
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Spinocerebellar Ataxia Type 1
sign 0003487 Bulbar palsy 0001283 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental[rarediseases.info.nih.gov]
[…] of extrapyramidal motor function 0002071 Adult onset Symptoms begin in adulthood 0003581 Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Babinski[rarediseases.info.nih.gov]
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Congenital Neuropathy with Arthrogryposis Multiplex
sign 0003487 Broad-based gait Wide based walk 0002136 Calcaneovalgus deformity 0001848 Congenital onset Symptoms present at birth 0003577 Congenital peripheral neuropathy[rarediseases.info.nih.gov]
[…] people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Arthrogryposis multiplex congenita 0002804 Autosomal dominant inheritance 0000006 Babinski[rarediseases.info.nih.gov]
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Hereditary Spastic Paraplegia
The clinical picture is composed of difficulty walking, exaggerated deep reflexes, pathological reflexes such as the Babinski sign, sphincter disturbances and various degrees[clinicaltrials.gov]
Hoffmann's sign and Babinski's sign also can be seen.[explainmedicine.com]
Other symptoms that commonly occur: increased urinary urgency and frequency; difficulty with balance; hyperactive reflexes clonus Babinski's sign diminished vibration sensation[biomediclabs.com]
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Autosomal Recessive Spastic Ataxia Type Charlevoix-Saguenay
Nystagmus, Babinski signs, and proprioceptive sensory loss are universally present. Some patients have amyotrophy of the lower limbs.[ataxia.uchicago.edu]
The pyramidal syndrome is characterized by rapid tendon reflexes of knee bone and Babinski signs.[tellmegen.com]
The pyramidal syndrome is characterised by brisk patellar tendon reflexes and the Babinski sign.[orpha.net]
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Mucolipidosis Type 4
sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral dysmyelination 0007266 Decreased light- and dark-adapted electroretinogram amplitude 0000654 Dysplastic[rarediseases.info.nih.gov]
[…] keratoderma 0000982 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Autosomal recessive inheritance 0000007 Babinski[rarediseases.info.nih.gov]