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Adenine Nucleotide Translocator Deficiency
agnathia-otocephaly complex
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Athabaskan brainstem dysgenesis syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia
bladder exstrophy-epispadias-cloacal exstrophy complex +
caudal regression syndrome
chronic progressive external ophthalmoplegia +
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 + An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)
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
developmental cardiac valvular defect
Diffuse Lewy Body Disease with Gaze Palsy
distal arthrogryposis type 5
Duane retraction syndrome +
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
exophthalmic ophthalmoplegia
External Ophthalmoplegia and Myopia
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
glaucomatous atrophy of optic disc
Hamano Tsukamoto Syndrome
internuclear ophthalmoplegia
large congenital melanocytic nevus
Leber congenital amaurosis +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
Levator-Medial Rectus Synkinesis
Miles-Carpenter syndrome +
Minicore Myopathy with External Ophthalmoplegia
mitochondrial DNA depletion syndrome 11
Motor Neuron Disease with Dementia and Ophthalmoplegia
multiple congenital anomalies-hypotonia-seizures syndrome +
Nephrogenic Fibrosing Dermopathy
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Ocular Myopathy with Curare Sensitivity
Ophthalmoplegia Totalis with Ptosis and Miosis
Ophthalmoplegia, Familial Static
Ophthalmoplegia, Familial Total, with Iris Transillumination
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
primary congenital glaucoma +
Progressive External Ophthalmoplegia with Hypogonadism
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive supranuclear palsy +
proximal myopathy and ophthalmoplegia
rapidly involuting congenital hemangioma
Retroperitoneal Fibrosis +
Schimke X-Linked Mental Retardation Syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Setting-Sun Phenomenon, Familial Benign
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
Silver-Russell syndrome +
spondyloepiphyseal dysplasia with congenital joint dislocations
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
third cranial nerve disease +
Treft Sanborn Carey Syndrome
Zika virus congenital syndrome
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