SE-ATLAS

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