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24101 to 24200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Mutation in the Gamma C Crystallin
Opacities in Embryonic, Fetal, and Infantile Nuclei
Caused by Mutation in the Alpha A Crystallin Gene
Progressive Cataract
Fan-Shaped Cataract
Opacities in Embryonal Nuclei
Multiple Types of Congenital Cataract
Growth Hormone Low to Normal
Narcolepsy and Deafness Are the First Symptoms
Adult Onset (4th to 5th Decade of Life)
Cerebrospinal Fluid Hypocretin Decreased
Limb Lymphedema
Caused by Mutation in the KIAA0196 Gene (KIAA0196)
Atrophy of Shins
Upper Limb Spasticity
Fatal without Hematopoietic Stem Cell Transplantation
Caused by Mutation in the Syntaxin 11 Gene
Defective NK Cell Degranulation
Defective NK-Cell Activity
Soluble IL2 Receptor Increased
Hemophagocytosis in Bone Marrow and Lymph Nodes
Hyperinflammatory Disorder
Increased Risk of Myelodysplastic Syndrome or Leukemia
No 'Swiss Cheese' Abnormality
Heterochromatin in Erythroblasts Normal
Dysplastic Erythroblasts with Internuclear Chromatin Strands
Megaloblastic Erythroblasts in Bone Marrow (Biopsy)
Osteitis Fibrosa Cystica due to Elevated Parathyroid Hormone
Limited Flexion
Capillary Hemangioma on Face
Broad Metopic Suture
Thin Hypoplastic Vermilion Border
Raised Nasal Bridge
Corneal Drying
Macroblepharon
Renal Corticomedullary Differentiation Reduced
Respiratory Difficulties due to Orofacial Malformations
Mutation in the GSC Gene
Absence of Pubic Bones
Dysplastic Pinnae
Abnormal Ossicles
Shortening of the Clavicles
Lack of Scrotal Sac
Lack of Testes
Onset between Second and Sixth Decade
Mutation in the POU4F3 Gene
Downward-Sloping or Flat Audiogram
Postlingual Sensorineural Hearing Loss
Hypotrichosis
Lamellar Body-Like Deposits in Stratum Corneum
Thin Stratum Granulosum
Very Thin Stratum Granulosum of Hair Infundibulum
Hyperkeratosis of Hair Infundibulum
Thinned Hair Follicle Epithelium
Orthohyperkeratosis in Stratum Corneum
Follicular Atrophoderma
Pitted Teeth
Notched Teeth
Conical Primary Teeth
Sparse Eyelashes (Especially Lower Eyelid)
Long Curly Dark Upper Eyelashes
Commonly Death in Utero or in Early Infancy
Mutation in the FAM111A Gene
Long Bone Fractures Prenatally
Micromelic Short Limbs
Mineralization of Skull Decreased
Hypoplastic Cranial Bones
Obliteration of Medullary Cavity Seen on Radiography
Bones Dense but Thin
Thin Ribs and Clavicles
Thermosensitive Neuropathy
Mutation in the Keratin 85 Gene
Sparse Body Hair
Nuclear Coralliform Cataract
Mutation in the ABCB11 Gene
Mutation in the TNNT2 Gene
Intermittent Respiratory Insufficiency due to Muscle Weakness
Type 2 Fiber Atrophy Seen on Biopsy
Decreased Size of Nerve Terminals Seen on Muscle Biopsy
Thickened Endplate Basal Lamina (Muscle Biopsy)
Diarrhea due to Smooth Muscle Involvement
Some Features May be Variable
Mutation in the Homolog of the Drosophila Dachsous 1 Gene
Respiratory Difficulties due to Tracheomalacia
Flexion of the PIP Joints
Thickened Frontal Bones
Thickened Skull Base
Thick Gums
Thickening of the Nasal Alae
Rectoanal Atresia
Intestinal Malrotation - Esophageal Atresia
Some Patients Have Asymptomatic Hypocalcemia
Caused by Mutation in the Calcium-Sensing Receptor Gene
Bone Mineral Density of Lumbar Spine Increased
Premature Osteoarthritis
Hyperaldosteronemia
Hyperreninemia
Phosphate Normal or Mildly Elevated
Mild or Severe Hypocalcemia
Pulmonary Hypoplasia Associated with Diaphragmatic Hernia