SE-ATLAS

Waardenburg syndrome type 2 Gerstmann-Straussler-Scheinker syndrome Trichothiodystrophy Genitopatellar syndrome Lujan-Fryns syndrome Friedreich ataxia Cleft hard palate Rett syndrome Hypnic headache Non-syndromic posterior hypospadias Lissencephaly syndrome, Norman-Roberts type Hemimegalencephaly Coffin-Siris syndrome Brachydactyly type A2 46,XY complete gonadal dysgenesis BOR syndrome Polymicrogyria Inherited human prion disease Sarcoidosis Oculocerebrofacial syndrome, Kaufman type Unilateral polymicrogyria Schizencephaly Pediatric hepatocellular carcinoma Borjeson-Forssman-Lehmann syndrome Limited cutaneous systemic sclerosis Variant ABeta2M amyloidosis Limited systemic sclerosis CREST syndrome Smith-Magenis syndrome Bilateral perisylvian polymicrogyria 46,XY partial gonadal dysgenesis Transient congenital hypothyroidism due to maternal factor Fryns syndrome Myotonic dystrophy 22q11.2 deletion syndrome Cataract-intellectual disability-hypogonadism syndrome Primary congenital hypothyroidism Central congenital hypothyroidism Waardenburg syndrome Congenital hypothyroidism Progressive myoclonic epilepsy type 1 Bilateral parasagittal parieto-occipital polymicrogyria Infantile spasms syndrome Angelman syndrome due to maternal 15q11q13 deletion Transient congenital hypothyroidism Fatal familial insomnia Coloboma of iris Coloboma of eye lens Coloboma of eyelid Cornelia de Lange syndrome Coloboma of macula Wild type ABeta2M amyloidosis Coloboma of optic disc AA amyloidosis AGel amyloidosis Sporadic Creutzfeldt-Jakob disease Bifid uvula Amyloidosis Syndromic hypothyroidism Limb-mammary syndrome Cleft velum Wild type ATTR amyloidosis Waardenburg syndrome type 1 Genetic transient congenital hypothyroidism Microlissencephaly Coloboma of choroid and retina Localized scleroderma Pendred syndrome Unilateral hemispheric polymicrogyria Bilateral frontoparietal polymicrogyria Diffuse cutaneous systemic sclerosis Toriello-Carey syndrome Wolf-Hirschhorn syndrome Monosomy 5p Scleroderma Genetic intestinal polyposis Van der Woude syndrome Waardenburg syndrome type 3 Partington syndrome Werner syndrome Renal hypoplasia COFS syndrome AL amyloidosis ATTRV30M amyloidosis Hereditary amyloidosis with primary renal involvement Micro syndrome Blepharophimosis-intellectual disability syndrome, SBBYS type Angelman syndrome due to paternal uniparental disomy of chromosome 15 Hereditary ATTR amyloidosis Scalp-ear-nipple syndrome Permanent congenital hypothyroidism Early-onset autosomal dominant Alzheimer disease Li-Fraumeni syndrome Miller-Dieker syndrome Bilateral generalized polymicrogyria Transient congenital hypothyroidism due to neonatal factor Bilateral polymicrogyria Campomelic dysplasia Lynch syndrome Tietz syndrome Hutchinson-Gilford progeria syndrome Bilateral frontal polymicrogyria Blepharophimosis-intellectual disability syndrome, Ohdo type Branchio-oculo-facial syndrome Unilateral focal polymicrogyria