SE-ATLAS

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