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1,667 Possible Causes for 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]

  • 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]

  • Cardiodysrhythmic Potassium-Sensitive Periodic Paralysis

    Andersen's syndrome is a clinically distinct form of potassium-sensitive periodic paralysis associated with cardiac dysrhythmias. The subtle nature of the cardiac and dysmorphic features may delay the recognition of this syndrome and its potentially lethal cardiac dysrhythmias. The genetic defect in Andersen's[…][ncbi.nlm.nih.gov]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • Prader-Willi Syndrome

    The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of[…][ncbi.nlm.nih.gov]

  • X-linked Intellectual Disability Armfield Type

    Genes and mapped phenotypes Gene ID: 57791, updated on 8-Apr-2017 Summary Gene symbol MRXSA Gene description Armfield X-linked mental retardation syndrome Primary source MIM:300261 Gene type unknown Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;[…][ncbi.nlm.nih.gov]

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