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250 Possible Causes for Fat Deposits in Muscle Fibers, Hypoplastic Toenails

  • Lethal Neonatal Carnitine Palmitoyl Transferase II Deficiency

    toenails.[genome.jp] toenails, microcephaly, agenesis of corpus callosum, polymicrogyria and cerebral calcifications. [6] Babies could appear lethargic and hypotonic soon after birth as in the[jcnonweb.com] toenails Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Knee flexion contracture Elbow flexion contracture Sloping forehead Wide intermamillary[mendelian.co]

  • Amelo-Onycho-Hypohidrotic Syndrome

    toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800 4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231 5 abnormality of dental[malacards.org] toenails Underdeveloped toenails 0001800 Onycholysis Detachment of nail 0001806 Yellow-brown discoloration of the teeth Yellow-brown discolored teeth 0006286 30%-79% of people[rarediseases.info.nih.gov] Abnormality of the fingernails Abnormal fingernails 0001231 Hyperkeratosis 0000962 Hypohidrosis Decreased ability to sweat Decreased sweating Sweating, decreased [ more ] 0000966 Hypoplastic[rarediseases.info.nih.gov]

    Missing: Fat Deposits in Muscle Fibers
  • Tarsal Tunnel Syndrome

    , absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration nephrotic syndrome peripheral oedema, albuminuria, reduced plasma albumin ([medical-dictionary.thefreedictionary.com] […] person about another musculoskeletal pain syndrome see polymyalgia rheumatica nail–patella syndrome; hereditary arthrodysplasia autosomal-dominant abnormality of finger/toenails[medical-dictionary.thefreedictionary.com]

    Missing: Fat Deposits in Muscle Fibers
  • BOD Syndrome

    toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov] Brachydactyly Delayed skeletal maturation Fingernail dysplasia Hypoplastic fifth fingernail Hypoplastic toenails Long philtrum Microcephaly Short distal phalanx of toe Toenail[dovemed.com] The relationship between these syndromes is presently unknown. 0002750 Fingernail dysplasia Abnormal fingernail development 0100798 Hypoplastic fifth fingernail Underdeveloped[rarediseases.info.nih.gov]

    Missing: Fat Deposits in Muscle Fibers
  • Dubowitz Syndrome

    toenails Underdeveloped toenails 0001800 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Lymphoma Cancer of lymphatic system 0002665 Malabsorption[rarediseases.info.nih.gov] toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus Pectus excavatum Rectal prolapse Sacral dimple Scoliosis Seizures Spina bifida[dovemed.com] […] more ] 0000218 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hydronephrosis 0000126 Hypoparathyroidism Decreased parathyroid hormone secretion 0000829 Hypoplastic[rarediseases.info.nih.gov]

    Missing: Fat Deposits in Muscle Fibers
  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    Related phenotypes are aganglionic megacolon and aplastic/hypoplastic toenail Description from OMIM: 306980[malacards.org] Showing of 8 80%-99% of people have these symptoms Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Aplastic/hypoplastic toenail Absent/small toenails Absent[rarediseases.info.nih.gov] […] underdeveloped toenails [ more ] 0010624 30%-79% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Hypoplastic fingernail Small fingernail Underdeveloped[rarediseases.info.nih.gov]

    Missing: Fat Deposits in Muscle Fibers
  • Schneckenbecken Dysplasia

    toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and symptoms may be present: Anterior rib cupping Advanced ossification[dovemed.com] toenails Underdeveloped toenails 0001800 5%-29% of people have these symptoms Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Advanced[rarediseases.info.nih.gov] Micromelia Narrow chest Polyhydramnios Short neck Short ribs Frequently present symptoms in 30-79% of the cases: Abnormality of the fingernails Cryptorchidism Dolichocephaly Hypoplastic[dovemed.com]

    Missing: Fat Deposits in Muscle Fibers
  • Patau Syndrome

    : Bent, narrow and partially hypoplastic (underdeveloped) Malformations and malpositions Polydactylia : Presence of additional fingers Rock bottom feet Sandal gap : Wide spacing[flexikon.doccheck.com] […] hypoplasia ) Low set and abnormally formed ( dysplastic ) ears Malformation of the extremitites Conspicuous dermal ridges Simian fold : In about 75% of cases Finger- and toenails[flexikon.doccheck.com]

    Missing: Fat Deposits in Muscle Fibers
  • Autosomal Dominant Prognathism

    toenails Abnormality of dental morphology Polycystic ovaries Abnormality of the fingernails Abnormality of the nail Fine hair Branchial sinus Conical tooth Concave nail Toenail[mendelian.co] […] atresia Everted upper lip vermilion Postauricular pit Fusion of middle ear ossicles Lacrimal duct stenosis Small nail Fragile nails Agenesis of permanent teeth Ovarian cyst Hypoplastic[mendelian.co]

    Missing: Fat Deposits in Muscle Fibers
  • Choroid Plexus Papilloma

    toenails.[nature.com] […] prominent nose, normal appearing mouth and ears, single palmar creases, bilateral 5 th finger clinodactyly, hyperconvex nails of fingers 3, 4, and 5, spatutate fingertips, and hypoplastic[nature.com]

    Missing: Fat Deposits in Muscle Fibers

Further symptoms