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acrocardiofacial syndrome
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Aicardi-Goutieres syndrome +
Antley-Bixler syndrome with disordered steroidogenesis
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
Autoinflammation with Arthritis and Dyskeratosis
autosomal dominant disease +
autosomal recessive disease +
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
blepharophimosis, ptosis, and epicanthus inversus syndrome + A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. (DO)
blepharophimosis-impaired intellectual development syndrome
Bloch-Sulzberger syndrome +
Bor-Duane Hydrocephalus Contiguous Gene Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cardiac-Urogenital Syndrome
chromosome 1q41-q42 deletion syndrome +
Coloboma of Alar-Nasal Cartilages with Telecanthus
combined oxidative phosphorylation deficiency 55
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
Cutaneous Hemangiomatosis with Associated Features
Dermal Ridges, Nelson Syndrome
disorder of sexual development +
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
Duane retraction syndrome 1
Duane retraction syndrome 2
Duane retraction syndrome 3
Duker Weiss Siber syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
exudative vitreoretinopathy 4
familial adenomatous polyposis +
Familial Dyskeratotic Comedones
familial Mediterranean fever +
Familial Popliteal Pterygium Syndrome
fetal encasement syndrome
focal segmental glomerulosclerosis 3
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
glucose transporter type 1 deficiency syndrome +
hand-foot-genital syndrome
Hereditary Benign Intraepithelial Dyskeratosis
Hereditary Sclerosing Poikiloderma +
hereditary spastic paraplegia 30 +
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations
Hypohidrosis with Abnormal Palmar Dermal Ridges
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
inflammatory poikiloderma with hair abnormalities and acral keratoses
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Kaufman oculocerebrofacial syndrome
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Krauss Herman Holmes Syndrome
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Microcephaly Seizures Genital Hypoplasia
Multicystic Dysplastic Kidney +
multiple benign circumferential skin creases on limbs +
Multiple Noduli Cutanei with Urinary Tract Abnormalities
Multiple Self-healing Palmoplantar Carcinoma
Myotubular Myopathy with Abnormal Genital Development
Nablus Mask-Like Facial Syndrome
Nephrosis with Deafness and Urinary Tract and Digital Malformations
neurodevelopmental disorder with hypotonia and speech delay
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
Oculocerebrocutaneous Syndrome
Omphalocele Exstrophy Imperforate Anus
Patternless Dermal Ridges
Piepkorn Karp Hickok syndrome
poikiloderma with neutropenia
popliteal pterygium syndrome +
pseudoxanthoma elasticum +
Renal Dysplasia - Limb Defects Syndrome
Renal, Genital, and Middle Ear Anomalies
Ridges-off-the-end Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Short Stature and Microcephaly with Genital Anomalies
Skin/Hair/Eye Pigmentation, Variation In, 1
Skin/Hair/Eye Pigmentation, Variation In, 10
Skin/Hair/Eye Pigmentation, Variation In, 11
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Skin/Hair/Eye Pigmentation, Variation In, 3
Skin/Hair/Eye Pigmentation, Variation In, 4
Skin/Hair/Eye Pigmentation, Variation In, 5
Skin/Hair/Eye Pigmentation, Variation In, 6
Skin/Hair/Eye Pigmentation, Variation In, 7
Skin/Hair/Eye Pigmentation, Variation In, 8
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocostal dysostosis 5
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Structural Heart Defects and Renal Anomalies Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 6
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
Urban Schosser Spohn Syndrome
Urinary Tract Abnormalities +
Van den Ende-Gupta syndrome
Weill-Marchesani syndrome +
Winter Shortland Temple Syndrome
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