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28101 to 28200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Rib Fusion at Multiple Points
Rib Number Reduced
1 Mb Duplication on Chromosome 2q31.1
Hypoplastic Triphalangeal Thumb
Complex Hand Anomalies
Tibial Shortening
Ulnar Shortening
Radial Shortening
Membranous or Muscular Ventricular Septal Defect
Thick Vermilion of Upper and Lower Lips
Congenital Heart Defects (21%)
Plexiform Neurofibroma (76%)
Cutaneous Neurofibromas
Subcutaneous Neurofibromas
Accelerated Carpal Bone Age
Large Hands (46%)
Joint Laxity Increased
Bone Cysts (50%)
Malignant Peripheral Nerve Sheath Tumors (21%)
Optic Glioma (19%)
Lisch Nodules (Iris Hamartomas) in 93%
Soft Fleshy Palms (50%)
Attention Difficulties
Hyperintensities (T2, 17%)
Spinal Neurofibromas
Speech Difficulties (48%)
Delayed Cognitive Development and Learning Disabilities (93%)
Some Phenotypic Overlap with Alpers Syndrome
Onset in Infancy or Late Childhood
Some Patients May Have Hepatic Dysfunction
Decreased Activities of Complexes I and IV
Body Temperature Instability
Death by Age 2 Years
Caused by Mutation in the Homolog of the S. Cerevisiae Alg11 Gene
Di- and Asialo-Transferrin Increased
Widespread Brain Calcifications
C1Q Molecule Present but Dysfunctional
Caused by Mutation in the KIAA0415 Gene (KIAA0415 613653-0001)
Distal Symphalangism of 2nd-5th Toes
Hypoplastic Metatarsals and Phalanges of the Great Toes
Sandal-Toe Gap between Great and Second Toe
Short Middle Phalanges of Second through Fifth Fingers
Lymphedema Resolves by Age 3 Years
Lymphedema of the Extremities
Onset of Dysmorphic Features and Developmental Delay in Infancy
Keratinized Purple Nodular Skin Lesions
Intermediate Level of Cellular Sensitivity to UV Light
Steroid-Resistant Nephrotic Syndrome
Congenital Cardiac Defects
No Autism
Squared-Off Ears
Hypoplastic Zygoma
Long Midface
Mutation in the RP1-Like Protein 1 Gene
Focal Macular Electroretinogram Severely Reduced
Full-Field Electroretinogram Normal
Ophthalmoscopy Shows Normal Fundus
Slowly Progressive Decreased Visual Acuity
Electroretinogram Reduction as Early as 4 Years of Age
Lack of Foveal Reflex
Markedly Reduced or Completely Extinct Electroretinograms
Markedly Constricted Visual Fields
Severe Early Onset Eye Disease
Pigmentary Retinopathy with Typical Bone Spicule Appearance
Thin Body Hairs
Yellowish Toenails
Yellowish Fingernails
Hypoplastic Flat Nails
Mild Epidermolytic Hyperkeratosis
Hard Scaly Skin
Bilateral Partial Cutaneous Syndactyly
Mutation in the YARS2 Gene
Axonal Polyneuropathy
Bulbar Palsy
Contiguous Gene Syndrome due to Gene Duplication
Mutation in the G Protein Signaling Modulator 2 Gene
Caused by Mutation in the Transmembrane Protein 67 Gene
Mild Cortical Atrophy
Caused by Deletion of 3.7 Mb on Chromosome 6q13-q14
Onset of Calf Hypotrophy May Occur Earlier
Onset of Muscle Weakness in Fifth Decade
Cytochrome C Oxidase Negative Fibers
Rarely Centralized Nuclei
Muscle Biopsy Shows Abnormal Fiber Size and Variation
EMG Shows Myopathic Pattern
Hip Girdle Muscle Atrophy
Thick Choroid
Thick Sclera
Lens-to-Eye Volume Ratio Increased
Caused by a 1.37 Mb Deletion on 4q21 Encompassing 5 Genes
Cerebral Ventricular Dilatation
Speech Absent or Delayed
Cytoplasmic Glycogen Depletion
Central Vacuoles Containing PAS-Positive Material
Hypertrophic Cardiomyocytes
Marked Predominance of Type 1 Muscle Fibers
Glycogen Depletion in Skeletal Muscle
Onset in First Month of Life
Absence of Lymph Nodes
Mutation in the Lambda-Like Immunoglobulin Polypeptide 1 Gene