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34501 to 34600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Small Ilia
Craniosynostosis of Coronal Lambdoid and/or Metopic Sutures
Thin, Long, Pointed Nose
Plagiocephaly (Orbital Asymmetry)
Long and Prominent Ear Crus
High, Flat Forehead
Laryngo-, Tracheo-, Bronchomalacia
Brachymesophalangy of Hands and Feet
Partial Syndactyly of Fingers and Toes
Craniosynostosis - Coronal with or without Sagittal Suture
Epiphyseal Stippling Is Gone by 8 Months of Age
Dorsal Hand Wrinkling
Small Vertebrae
Dimpled Nasal Tip
Blue Eyes
Prenatal-Onset Mild to Moderate Growth Retardation
Brachymelic Dwarfism (Upper Limbs Greater than Lower Limbs)
Thick Straight Hair
Curved Nails
Short Distal Digit
Pseudoclubbing
Long, Bowed Fibulae
Progressive Basilar Impression
Sella Turcica Elongated
Thickened Skull Vault
Failure of Suture Ossification
Round, Yellow-Brown DHA Crystals in Urine
2,8-Dihydroxyadenine Urinary Stones
APRT Deficiency as Measured in Erythrocyte Lysate
Treatment: PEG-ADA, Bone Marrow Transplantation, and/or Gene Therapy
85-90% with Manifestations in First Months of Life
Late-Onset Combined Immunodeficiency with Allelic Variant
Mutation in the Adenosine Deaminase Gene
2'-Deoxyadenosine Increased
Adenosine Levels Elevated
CD4+ : CD8+ Ratio Often Reversed
IgG2 Subclass Absent
IgM Levels Low or Absent
IgA Low or Absent
Erythrocyte Adenosine Deaminase Activity Reduced
Thick Growth Arrest Lines
Pelvic Dysplasia
Absent Specific Antibody Response
Absent or Small, Dysplastic Thymus
Absent or Reduced CD3+ Cells
Absent T Cells
Frequent Fungal Viral and Opportunistic Infections
Allelic Disorder to Split-Hand-Foot Malformation Type 4
Allelic to Rapp-Hodgkin Syndrome
Allelic Disorder to Limb-Mammary Syndrome (LMS)
Caused by Mutation in the Tumor Protein p73-Like Gene
Premature Scalp Hair Loss
Premature Loss of Secondary Teeth
Alacrima/Hypolacrimation
Atretic Lacrimal Punctum
Lacrimal Gland Hypoplasia
Mutation in the MITF Gene
White Blonde Hair
No Heterochromia Irides
Bilateral Congenital Profound Sensorineural Hearing Loss
Mutation in the G Protein Alpha Stimulating Polypeptide 1 Gene
Short Metacarpals (Especially 4th and 5th)
Variable Phenotypic Expression
Fusion of the CYP11B1 Gene
Hypertension - Suppressible by Glucocorticoid Treatment
18-Hydroxycortisol Increased
18-Oxocortisol Increased
Potassium Normal or Decreased
Alpha-2 Macroglobulin Levels Decreased
Favorable Response to Flunarizine
Onset before 18 Months of Age
Upward Eye Deviation during Episodes
Headache is Usually Not a Symptom
Neurologic Regression after Prolonged Episodes
Autonomic Involvement Affecting Limbs during Episodes
Episodic Hemiplegia
Neurofibrillary Tangles Composed of Disordered Microtubules
Xerosis (Buttocks and Extensor Surfaces of Extremities)
Delayed Second Dentition
Yellow-Brown Discoloration of the Teeth
Hypocalicifed Hypoplastic Enamel
Icelandic Families
Death before Age 40
Onset 3rd to 4th Decade of Life
Mutations in the Cystatin C Gene
Cerebrospinal Fluid Cystatin C Decreased
Premature Stroke
Mutation in the Transthyretin Gene
Amyloid Deposition in the Vitreous Humor
Amyloid Deposition in Leptomeningeal Vessels, Brain Stem, Spinal Cord
Approximately 10% of ALS Cases Are Familial
Susceptibility Conferred by Mutation in the Dynactin 1 Gene
Susceptibility Conferred by Mutation in the Peripherin Gene
Susceptibility Conferred by Mutation in the NEFH Gene
Reduced Cytosolic Superoxide Dismutase 1 (SOD1)
Pseudobulbar Palsy - e.g. Involuntary Weeping or Laughter
Upper and Lower Neuron Manifestations
Ocular Motility Spared
2-3% due to Imprinting Defects
2% due to Paternal Uniparental Disomy of 15q11.2-q13