Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Steroid sensitive nephrotic syndrome of childhood (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Impairment of child development |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Steroid resistant nephrotic syndrome of childhood |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Interstitial lung disease of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile hemangioendothelioma |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Overconsumption of milk in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Early childhood (qualifier value) |
Is a |
True |
Childhood |
Inferred relationship |
Some |
|
Cardiac tumors are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Sporadic idiopathic steroid-resistant nephrotic syndrome (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Irritable bowel syndrome variant of childhood with diarrhea |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Entire life |
Is a |
False |
Childhood |
Inferred relationship |
Some |
|
Irritable bowel syndrome variant of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Irritable bowel syndrome variant of childhood with constipation |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Childhood cellulitis of perianal region caused by beta-hemolytic Streptococcus group A (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Gastroesophageal reflux in child |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
|
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
8 |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
9 |
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Pediatric onset systemic sclerosis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Gender dysphoria in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Severe pediatric obstructive sleep apnea (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
4 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
Oppositional defiant disorder co-occurrent with chronic irritability-anger with normal prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger with limited prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Oppositional defiant disorder without chronic irritability-anger with normal prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder with limited prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder with normal prosocial emotions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
dermatite herpétiforme juvénile |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Anogenital streptococcal cellulitis of infancy and childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Epilepsy of infancy with migrating focal seizures |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood seizure |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Problème relationnel de l'enfant |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
Short stature of childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric follicular lymphoma (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Acute polyarticular juvenile idiopathic arthritis (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
|
Juvenile osteochondrosis of right tarsal navicular (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of left tarsal navicular |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of right second metatarsal |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Juvenile osteochondrosis of left second metatarsal |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Polyarticular juvenile idiopathic arthritis |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
|
A rare type of juvenile idiopathic inflammatory myopathy (IIM) characterized by an onset before 18 years of age of chronic skeletal muscle inflammation, manifesting as progressive, proximal and distal muscle weakness and atrophy. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood onset conduct-dissocial disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Underweight in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Nutritional wasting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acute malnutrition in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Nutritional stunting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric onset Sjögren syndrome |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Gender identity disorder of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Recurrent benign focal seizures of childhood |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Gastroesophageal reflux in child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acquired megacolon in child (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Acquired megacolon in child (disorder) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Acquired epileptic aphasia |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Mucinous cystadenoma of ovary in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Serous cystadenoma of ovary in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood double incontinence (finding) |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
3 |
A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder with characteristics of childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculo clonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Coxa plana |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterised by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioural abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile tabes dorsalis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
2 |
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. |
Occurrence |
False |
Childhood |
Inferred relationship |
Some |
1 |
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile osteochondrosis of left tarsus |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
4 |
Juvenile osteochondrosis of bilateral tarsals (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
Juvenile osteochondrosis of right tarsus (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
4 |
Juvenile arthritis of inflammatory bowel disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile plantar dermatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |