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1,749 Possible Causes for MRI Shows Increased Connective Tissue and Fat, Onset of Symptoms in First or Second Decade of Life, Small Foot

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    […] of signs and symptoms typically beginning in the first or second decade of life (Table 1 ).[doi.org] […] variable phenotype of periodic paralysis, cardiac arrhythmia, and distinctive facial and skeletal anomalies. 2, 16 GENERAL CLINICAL PRESENTATION Patients with PP experience an onset[doi.org]

    Missing: MRI Shows Increased Connective Tissue and Fat
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L

    The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation.[icd10data.com]

    Missing: Small Foot
  • Early Infantile Epileptic Encephalopathy Type 2

    Forms and Documents Test Details Genes: Expand Genes ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1,[…][genedx.com]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Rothmund Thomson Syndrome

    […] eyeball 0000568 Osteoporosis 0000939 Short foot Short feet Small feet [ more ] 0001773 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279[rarediseases.info.nih.gov] Short thumb Short thumbs Small thumbs [ more ] 0009778 Small hand Disproportionately small hands 0200055 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes[rarediseases.info.nih.gov] […] equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Telangiectasia 0001009 Zonular cataract 0010920[rarediseases.info.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Rett Syndrome

    Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of[…][ncbi.nlm.nih.gov]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Autosomal Recessive Spastic Paraplegia Type 20

    When present it is found in distal muscles in the lower limbs, usually the small muscles of the foot and tibialis anterior.[jnnp.bmj.com]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Sanjad-Sakati Syndrome

    foot - Small hand / acromicria - Thin / retracted lips Frequent - Anomalies of teeth and dentition - Enamel anomaly - Repeat respiratory infections Occasional - Anophthalmos[csbg.cnb.csic.es] (very frequent sign) seizures (any type) (very frequent sign) short stature/dwarfism (very frequent sign) small foot (very frequent sign) small hand (very frequent sign) thin[whonamedit.com] Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Small[csbg.cnb.csic.es]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Kenny-Caffey Syndrome Type 1

    ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce[mousephenotype.org] […] delay as children 0008897 Short foot Short feet Small feet [ more ] 0001773 Small hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long[rarediseases.info.nih.gov] Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot[mousephenotype.org]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Acrootoocular Syndrome

    Disease definition A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. Summary Epidemiology Only 4 cases have been reported in the literature from 3 inbred sibships. Clinical[…][orpha.net]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life
  • Prader-Willi Syndrome

    Prader–Willi syndrome is a rare, genetic disorder characterized especially by failure to thrive, short stature, mental retardation, hypotonia, functionally deficient gonads, and obesity. The presentation of Prader-Willi syndrome depends upon the age of the patient. In fetal life: Reduced fetal movements and abnormal[…][symptoma.com]

    Missing: MRI Shows Increased Connective Tissue and Fat Onset of Symptoms in First or Second Decade of Life