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Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
agnathia-otocephaly complex
anogenital venereal wart +
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Beaulieu-Boycott-Innes Syndrome
bladder exstrophy-epispadias-cloacal exstrophy complex +
blepharophimosis, ptosis, and epicanthus inversus syndrome +
Cardiac-Urogenital Syndrome
caudal regression syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cleft palate-lateral synechia syndrome
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital disorder of glycosylation +
congenital fibrosis of the extraocular muscles +
Congenital Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital nervous system abnormality +
congenital secretory chloride diarrhea 1
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
corpus callosum agenesis-abnormal genitalia syndrome
developmental cardiac valvular defect
disorder of sexual development +
Duker Weiss Siber syndrome
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
hand-foot-genital syndrome
hypospadias + A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
large congenital melanocytic nevus
Leber congenital amaurosis +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Microcephaly Seizures Genital Hypoplasia
Multicystic Dysplastic Kidney +
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Noduli Cutanei with Urinary Tract Abnormalities
Myotubular Myopathy with Abnormal Genital Development
Nephrosis Deafness Urinary Tract Digital Malformation
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Omphalocele Exstrophy Imperforate Anus
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Piepkorn Karp Hickok syndrome
popliteal pterygium syndrome +
primary congenital glaucoma +
rapidly involuting congenital hemangioma
Renal Dysplasia - Limb Defects Syndrome
Renal, Genital, and Middle Ear Anomalies
Rosselli-Gulienetti Syndrome
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
Short Stature and Microcephaly with Genital Anomalies
Silver-Russell syndrome +
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
spondyloepiphyseal dysplasia with congenital joint dislocations
Structural Heart Defects and Renal Anomalies Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 6
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Urinary Tract Abnormalities +
Zika virus congenital syndrome
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