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Differential Diagnosis For Mental Deficiency Child, Pneumaturia/air (gas) in bladder/signs: Hereditary, Familial, Genetic Disorders


List of current finding(s):

Hereditary, Familial, Genetic Disorders: next: Degenerative-Age Related Causes
Xeroderma/Dry skin
Hemoglobin H disease
Cleidocranial digital dysostosis
Duchenne's Muscular Dystrophy/Pseudohypertrophic
Fragile X syndrome/X-linked retardation
Infantile neuroaxonal dystrophy
Nephritis, hereditary (Alports)
Paraplegia, spastic hereditary
Tuberous Sclerosis
Chromosome 22q13.3 deletion syndrome (22q13.3)
Johanson Blizzard genetic syndrome (unco)
Juberg Marsidi Genetic syndrome (unco)
Marinesco Sjogren syndrome
Myhre Syndrome
Pitt syndrome (4p16.3)
Schilder disease/Adrenoleukodystrophy
Timothy Calcium channel anomaly
Beckwith-Wiedemann Syndrome
MELAS Encephalopathy
Pallister W Syndrome
Zellweger Cerebrhepatorenal syndrome
Acrocephalosyndactyly type III syndrome
Apert syndrome
Bartter's syndrome
Bird-headed dwarf of Seckel
Borjeson-Forssman-Lehmann Syn/BFLS (xq26.3)
Canavan disease
Chondrodysplasia punctata/calcificans (Conradi)
Cockayne syndrome
Cryptophthalmos (Fraser) syndrome
Dysautonomia, familial
Hallervorden-Spatz disease (PKAN/NBIA)
Hermann's syndrome
Hypothalamic hypogonadism, Kallman's
Incontinentia pigmenti/hereditary
Kearns-Sayre Ophthalmoplegic Syndrome
Laurence-Moon-Biedel syndrome
Leukodystrophy, Krabbe
Lipodystrophy, generalized
Menkes steely hair disease
Oculocerebrorenal dystrophy/Lowe syndrome
Pelizaeus-Merzbacher disease
Schwartz-Jampel syndrome
Scott's Craniodigital syndrome
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome
Sneddon/Livedo reticularis syndrome
Stickler syndrome
Treacher Collins syndrome
Von Hipple-Lindau disease/Retinocerebellar angiomas
Williams syndrome/Elfin facies
Wyburn-Mason syndrome
18p chromosome deletion complex
Abducted thumbs syndrome
Acrocallosal syndrome (ACS)
Adducted thumbs-Mental retardation syndrome
Andermann Syndrome
Brooks syndrome
Cerebellar ataxia/Cayman type
Cerebrocostomandibular CCM Syndrome
Chromosome 20 deletion/Ring syndrome
Chudley Syndrome 1
Cowden disease/CD (10q23.31)
Craniofrontonasal Syndrome (CFNS)
Cryopyrin-associated Periodic Syndrome (CAPS)
Curran acrorenal syndrome
Faciocardiorenal Syndrome (Eastman-Bixler)
Hereditary autonomic/Sensory neuropathy (HSN III)
Kabuki make-up syndrome
MASA Syndrome
Michelin tire baby syndrome
Netherton's Syndrome
Odontoonychodermal dysplasia (Fadhill)
Orocraniodigital (Juberg-Hayward) Syndrome
Reiger Syndrome
Rosenberg-Bergstrom Syndrome
Say Syndrome 1