ID int64 1 105k | case stringlengths 242 7.11k | diagnosis stringlengths 4 123 |
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1 | A 2-week-old male presented with a history of muscle weakness, which began shortly after birth. The weakness has been persistent, occurring daily and described as moderate in intensity. The parents noted that the infant seemed unusually floppy and had difficulty maintaining muscle tone. Alongside this, they observed th... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
2 | A 10-month-old male presented with episodes of hypoglycemia, first appearing at 10 months of age. This hypoglycemia has persisted and occurs sporadically, often requiring corrective measures. The parents noticed that feeding the child more frequently helps manage the hypoglycemic episodes. Concurrently, the patient has... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
3 | A 1-week-old male presented with abnormal metabolic and homeostatic functions. The parents noticed that the infant appeared lethargic and had poor feeding habits that began at approximately one week of age. The symptoms were persistent and occurred with increasing frequency, leading to episodes of irritability and exce... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
4 | A 2-week-old female presented with visual loss that the parents first noticed as a lack of response to visual stimuli. The symptoms have been persistent since onset, with no periods of improvement. They are present constantly and do not vary in intensity. Attempts to stimulate the child with light or colorful objects h... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
5 | A 20-month-old male presented with episodes of low blood sugar levels that were first noticed approximately two months prior. These episodes have been occurring with a frequency of 2-3 times per week, with each episode lasting anywhere from a few minutes to an hour. The intensity of these episodes has varied, ranging f... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
6 | A 3-week-old male presented with initial symptoms of hypertrophic cardiomyopathy, which was incidentally discovered during a routine pediatric checkup at 4 weeks of age, characterized by an enlarged heart detected on physical examination and confirmed through imaging studies. There have been no episodes of cyanosis or ... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
7 | A 5-month-old female first presented with a decline in visual acuity. The visual loss was progressive, with the child now barely able to perceive light. By the age of 8 months, her developmental milestones were significantly delayed compared to her peers, indicating global developmental delay. These symptoms have persi... | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
8 | A male presented with symptoms that initially started during infancy. He reported experiencing generalized muscle weakness, which was described as a significant decrease in muscle tone. This symptom has persisted since its onset and occurs daily without any apparent pattern. The intensity of the muscle weakness fluctua... | 3-methylcrotonyl-CoA carboxylase deficiency |
9 | A 2-year-old male presented with muscle weakness that was first noticed six months ago. The weakness has been progressively worsening, with daily episodes that last for several hours. The intensity of the weakness varies but is most severe in the mornings and improves slightly with rest. The patient also reported exper... | 3-methylcrotonyl-CoA carboxylase deficiency |
10 | A 2-year-old male presented with symptoms that first started at the age of 2 years. The primary issues included elevated levels of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in the blood, which were initially noted during routine blood work. The abnormal metabolite concentrations have persisted over the last ... | 3-methylcrotonyl-CoA carboxylase deficiency |
11 | A male first presented with symptoms before birth, identified during routine prenatal screening. The initial concerns included a significantly underdeveloped heart. These concerns were detected early in the third trimester and have persisted. The child has a consistently shorter stature compared to peers, with growth p... | 3C syndrome |
12 | A antenatal male first presented with signs indicative of an atrial septal defect. The symptoms were noted in the prenatal ultrasounds, which revealed abnormal heart structures. These symptoms persisted and were further confirmed postnatally. The infant exhibited short stature, which was apparent at birth and continued... | 3C syndrome |
13 | A 2-month-old female presented with generalized muscle weakness, initially noted by her parents when she struggled to hold up her head and exhibited a floppy infant appearance. The hypotonia has been persistent since onset and does not fluctuate in intensity or frequency. There are no identifiable triggers that allevia... | 3C syndrome |
14 | A male presented with symptoms that were first noticed antenatally. The initial concerns included ventriculomegaly, which persisted throughout the pregnancy and was confirmed with imaging studies. The ventriculomegaly was moderate in intensity and remained stable without significant fluctuation. No specific triggers we... | 3C syndrome |
15 | A 1-week-old male first presented with a delay in achieving developmental milestones, which has been persistent and progressively more noticeable over time. The patient exhibits a high, narrow palate, and frontal bossing, which were observed early in infancy and have remained consistent. The global developmental delay ... | 3C syndrome |
16 | A 1-month-old male presented with symptoms indicative of an atrial septal defect and kyphosis. The symptoms initially manifested as difficulty in feeding and recurrent respiratory infections, first noted at approximately 1 month of age. These symptoms persisted, with feeding difficulties being particularly severe, requ... | 3C syndrome |
17 | A male presented with symptoms beginning antenatally. The patient exhibited several accompanying phenotypes. There was a noted atrial septal defect that was identified during antenatal ultrasonography and confirmed postnatally via echocardiography. Other physical features included a low anterior hairline, ventriculomeg... | 3C syndrome |
18 | A male, with symptoms first noted antenatally, presents with a complex medical history. The primary concern involves a cardiac anomaly identified as an atrioventricular canal defect, characterized by a lack of proper formation of the heart's chambers and valves. This defect was detected during a routine prenatal ultras... | 3C syndrome |
19 | A 9-month-old female presented with noticeable developmental delays, which her parents first observed when she failed to achieve typical milestones such as sitting up and babbling. These delays have been persistent and have not shown significant improvement over time. The parents also noted that their daughter experien... | Tetrasomy X syndrome |
20 | A 22-month-old female presented with a history of multiple phenotypes. The parents first noticed hypertelorism when the child was around 18 months old. The distance between the eyes appeared wider than usual and was consistent in its presentation without any noticeable fluctuation. The upslanted palpebral fissures were... | Tetrasomy X syndrome |
21 | A 1-week-old female presented with notable challenges in visual coordination and eye alignment. The parents reported that the child's eyes appeared misaligned almost immediately after birth, with the left eye noticeably drifting inward. This strabismus was constant and did not vary in intensity. The child also exhibite... | Tetrasomy X syndrome |
22 | A 1-week-old female patient first presented with symptoms of global developmental delay. The parents initially noticed that the infant was not meeting typical developmental milestones. This was characterized by a lack of visual tracking and no response to auditory stimuli. Over the subsequent months, the delay in achie... | Tetrasomy X syndrome |
23 | A 10-month-old male first presented with developmental delays. His parents noted that he was not reaching developmental milestones at the expected times, such as sitting up, crawling, and babbling. He also exhibited hyperflexibility in his joints, which was evident during routine movements. The child showed signs of au... | 48,XXYY syndrome |
24 | A male patient initially presented with global developmental delay, lagging behind peers in achieving developmental milestones. Intellectual disability was observed, with the patient requiring special educational support and exhibiting difficulties in cognitive functioning.The patient has decreased testicular size and ... | 48,XXYY syndrome |
25 | A 4-week-old female presented with a history of intellectual disability, with symptoms first noticed shortly after birth. The symptoms include difficulty in achieving developmental milestones appropriate for her age. The parents reported that she was unable to focus on objects or respond to auditory stimuli as expected... | Pentasomy X syndrome |
26 | A 2-week-old female presented with a noticeable curvature of the 5th finger, observed shortly after birth. This curvature has been persistent, with no fluctuation in its intensity or frequency. No specific triggers have been identified that alleviate or exacerbate this condition. Additionally, the infant exhibits a dev... | Pentasomy X syndrome |
27 | A 2-week-old female presented with a short foot, which was noted by her parents shortly after birth. The short foot was observed to be persistently shorter than expected for her age, and this discrepancy has remained consistent over time. Additionally, the child exhibited a wide nasal bridge from birth, which has becom... | Pentasomy X syndrome |
28 | A 3-week-old female presented with parents noting a wide nasal bridge and low-set, posteriorly rotated ears that had been apparent since birth. The parents also noticed that the baby had fingers that seemed to be permanently bent (camptodactyly), especially noticeable on the right hand. These symptoms had been constant... | Pentasomy X syndrome |
29 | A 4-week-old female presented with low-set, posteriorly rotated ears noted by her parents shortly after birth. Over the subsequent weeks, they observed the ears did not align with typical anatomical positioning and appeared further back on the head. Concurrently, the parents noticed developmental delays in social and c... | Pentasomy X syndrome |
30 | A 1-month-old male presented with a history of yellowing of the skin and eyes, which was first noticed by the parents. This discoloration, consistent with hyperbilirubinemia, has been persistent and has not shown significant improvement over time. The intensity of the jaundice fluctuates but remains apparent. The paren... | Abetalipoproteinemia |
31 | A 22-month-old male initially presented with difficulty seeing in low-light conditions. This symptom, known as nyctalopia, began insidiously and has progressively worsened over time. The parents noted that the child would often stumble or hesitate in dimly lit environments since about 2 years of age. The episodes are c... | Abetalipoproteinemia |
32 | A 8-year-old male initially presented with symptoms of chronic diarrhea, which began approximately six months prior to the consultation. The diarrhea episodes occurred daily, each lasting several hours, and were noted to be particularly intense after the consumption of fatty foods, although no specific alleviating fact... | Abetalipoproteinemia |
33 | A 3-year-old male presents with a history of growth concerns and visual difficulties. The child first exhibited symptoms of poor growth and underdevelopment, notably failing to gain weight and grow according to expected pediatric milestones. These symptoms have persisted for approximately one year, with episodes of ste... | Abetalipoproteinemia |
34 | A 20-month-old female presented with a history of pale, bulky, and foul-smelling stools suggestive of steatorrhea, which first began at around 18 months of age. The symptoms have been persistent, occurring daily and showing no signs of improvement. The parents reported that the intensity of the symptoms varied, with so... | Abetalipoproteinemia |
35 | A 3-month-old male presented with oily, foul-smelling stools persisting over several weeks. Symptoms include passage of bulky stools several times a day with increased frequency post fatty meals, which appear to be a trigger. Parents reported that the condition has caused significant distress to the infant, with episod... | Abetalipoproteinemia |
36 | A 8-year-old male initially presented with generalized muscle pain that began abruptly and has persisted for several months. The myalgia occurs daily and is described by the patient as a constant, deep aching sensation primarily affecting the lower limbs. The intensity of the pain is moderate to severe, often limiting ... | Abetalipoproteinemia |
37 | A 9-month-old male presented with a history of decreased LDL cholesterol concentration, which was first noted at the age of 9 months. The low levels have persisted consistently, with no significant fluctuations. Episodes of decreased circulating vitamin E concentration were also observed around the same time, and these... | Abetalipoproteinemia |
38 | A 6-year-old female presented with a history of chronic diarrhea that began approximately three months prior to the initial consultation. The diarrhea is characterized by frequent, loose stools occurring multiple times per day. The episodes are persistent and have not shown significant improvement over time. The intens... | Abetalipoproteinemia |
39 | A 11-year-old male presented with absent reflexes, which were first noticed by his parents approximately 6 months ago. The absence of reflexes has been persistent and has not shown any improvement or worsening over time. The patient has been experiencing an increased number of immature red blood cells in his blood, ide... | Abetalipoproteinemia |
40 | A 2-week-old male presented with noticeable limb undergrowth. The parents observed that his limbs appeared shorter than usual since birth. This phenotype persisted continuously and became more apparent as the infant grew, with no specific triggers identified that alleviate or exacerbate the condition. Concurrently, the... | Achondroplasia |
41 | A 1-week-old male first presented with generalized muscular hypotonia. The decreased muscle tone was noticeable from birth and persisted without significant variation in intensity or frequency. Parents noted the hypotonia during routine handling and diaper changes, which seemed to exacerbate the limpness. No specific a... | Achondroplasia |
42 | A 1-week-old female presented with a noticeable limitation in elbow extension. The restriction in elbow movement was observed when the parents attempted to swaddle the newborn, and it has persisted since then. The limitation appears to be constant, with no significant change in intensity and no identifiable alleviating... | Achondroplasia |
43 | A 2-week-old male presented with bowing of the legs, which was first noticed by his parents during a routine diaper change. This symptom has been persistent since then, occurring continuously without any fluctuations in intensity. There are no identifiable triggers that alleviate or exacerbate the bowing of the legs. A... | Achondroplasia |
44 | A 3-month-old male initially presented with an unusual curvature of the lower back. This curvature has progressively worsened over time, leading to increased lumbar hyperlordosis. The parents first noticed this abnormal curvature shortly after birth, and it has persisted and intensified over the past few months. The ch... | Achondroplasia |
45 | A 5-month-old male first began presenting with symptoms approximately three weeks ago. The primary concerns started with increased irritability and noticeable muscle weakness. These symptoms have persisted since onset, with the muscle weakness progressively worsening over time. The irritability appears to be constant, ... | Fatal infantile lactic acidosis with methylmalonic aciduria |
46 | A 4-week-old female presented with an unusual history of abnormal movements and respiratory difficulties. Symptoms initially began with episodic respiratory distress that occurred several times a day, lasting for a few minutes to an hour. The intensity of these episodes varied, sometimes causing significant distress. E... | Fatal infantile lactic acidosis with methylmalonic aciduria |
47 | An 8-month-old male presented with a history of methylmalonic aciduria, which was initially noted when the infant started displaying symptoms of failure to thrive. These symptoms began when the child was around 6 months old and have persisted over the last two months, occurring daily with increasing intensity. The infa... | Fatal infantile lactic acidosis with methylmalonic aciduria |
48 | A 6-month-old female presented with difficulties in feeding that began approximately 1 month prior to this evaluation. The feeding difficulties have persisted daily, with the child being unable to consume adequate amounts of food or fluids. The episodes last throughout the day, intensifying during meal times and showin... | Fatal infantile lactic acidosis with methylmalonic aciduria |
49 | A 3-month-old male presented with generalized muscle weakness, observed as decreased muscle tone since birth. The hypotonia has been persistent and is noted to be more pronounced during periods of fatigue or illness. The intensity of the muscle weakness appears severe, and there is no clear alleviating factor identifie... | Fatal infantile lactic acidosis with methylmalonic aciduria |
50 | A 3-week-old male first presented with failure to thrive, noticeable since birth but becoming more apparent by 3 weeks of age. This condition persisted and was characterized by a lack of weight gain and poor growth. The severity of failure to thrive was substantial, and no specific triggers or alleviating factors were ... | Fatal infantile lactic acidosis with methylmalonic aciduria |
51 | A 1-year and 1-month-old male first presented with an enlarged liver, noted by his parents as abdominal distension. This symptom had been ongoing for approximately three months, and its intensity seemed to vary slightly but was generally persistent. Alongside this, the patient exhibited significant cognitive impairment... | Fatal infantile lactic acidosis with methylmalonic aciduria |
52 | A 14-year-old female first noticed symptoms of fatigue and muscle weakness 6 months ago. These symptoms had an insidious onset and gradually worsened over time. She reported experiencing these symptoms daily, with fluctuating intensity throughout the day, making it difficult for her to participate in usual activities o... | Distal renal tubular acidosis |
53 | A 54-year-old male first noticed a lack of proper weight gain and growth despite adequate nutritional intake approximately six months ago. This symptom persisted over time, with episodes occurring daily and with increasing intensity. The patient experienced alleviation of symptoms with dietary modifications, though the... | Distal renal tubular acidosis |
54 | A 53-year-old male presented with a history of progressive muscle weakness that began approximately three years ago. The patient reported that his symptoms started insidiously, with episodes of muscle weakness occurring several times a week, exacerbated by physical exertion and alleviated with rest. These episodes have... | Distal renal tubular acidosis |
55 | A 4-year-old female first presented with generalized muscle weakness that had gradually developed over the past six months. The weakness was persistent, showing moderate intensity. Parents noted that physical exertion exacerbated the weakness, while rest provided some relief. Concurrently, there was a noticeable delay ... | Distal renal tubular acidosis |
56 | A 43-year-old female presented with a history of persistent and progressive symptoms. The initial symptom, chronic metabolic acidosis, began approximately 18 months ago. The patient reported experiencing generalized weakness, fatigue, and muscle cramps, which progressively worsened over time. The symptoms were persiste... | Distal renal tubular acidosis |
57 | A 11-year-old male presented with a history of nephrocalcinosis, which was first noted one year ago. The condition has persisted since its onset, with symptoms occurring intermittently. The intensity of symptoms has been moderate, but they worsen during periods of dehydration and physical exertion. There have been occa... | Distal renal tubular acidosis |
58 | A 3-year-old male began experiencing muscle weakness that was initially mild but progressively worsened over several months. The symptoms were intermittent at first, occurring a few times a week, each episode lasting a few hours. Over time, the intensity increased to the point where the child struggled with walking and... | Distal renal tubular acidosis |
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RaDaR-case
Synthetic rare disease cases and their corresponding diagnoses, provided as companion data for RaDaR-32B.
The dataset contains 104,666 records. Each line is a JSON object with three fields:
| Field | Description |
|---|---|
ID |
Record identifier |
case |
Synthetic patient case narrative |
diagnosis |
Diagnosis label |
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