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acrofrontofacionasal dysostosis
Agenesis of Cervical Vertebrae
alpha thalassemia-X-linked intellectual disability syndrome
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta type 1E
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Aplasia Cutis Congenita of Limbs Recessive
Aplasia Cutis Congenita with Intestinal Lymphangiectasia
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
Arthrogryposis and Ectodermal Dysplasia
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
cardiofaciocutaneous syndrome +
cartilage-hair hypoplasia
Cenani-Lenz syndactyly syndrome
Cerebellar Ataxia and Ectodermal Dysplasia
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
chromosome Xp11.23-p11.22 duplication syndrome
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
congenital disorder of glycosylation type IIm
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 5
cranioectodermal dysplasia +
craniofrontonasal syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
deafness, dystonia, and cerebral hypomyelination
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 2
developmental and epileptic encephalopathy 36
developmental and epileptic encephalopathy 85
developmental and epileptic encephalopathy 9
Diaphanospondylodysostosis
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Adrenal Cyst
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal Dysplasia-Skin Fragility Syndrome
Ectodermal Dysplasia-Syndactyly Syndrome +
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
Ellis-Van Creveld syndrome +
Erythropoietic Protoporphyria, X-Linked Dominant
Euhidrotic Ectodermal Dysplasia
female-restricted syndromic X-linked intellectual disability 99
focal dermal hypoplasia A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. (DO)
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Fronto-Facio-Nasal Dysplasia
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency
hypohidrotic ectodermal dysplasia +
Isolated Thoracic Dysostosis
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer Syndrome
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Lisch epithelial corneal dystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
neurodegeneration with brain iron accumulation 5
non-syndromic X-linked intellectual disability 1
non-syndromic X-linked intellectual disability 107
non-syndromic X-linked intellectual disability 19
non-syndromic X-linked intellectual disability 2
non-syndromic X-linked intellectual disability 41
non-syndromic X-linked intellectual disability 63
non-syndromic X-linked intellectual disability 89
non-syndromic X-linked intellectual disability 91
non-syndromic X-linked intellectual disability 98
nonphotosensitive trichothiodystrophy 5
nonsyndromic aplasia cutis congenita
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
orofaciodigital syndrome +
orofaciodigital syndrome I
otopalatodigital syndrome type 1
otopalatodigital syndrome type 2
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
primary ovarian insufficiency 2A
pure hair and nail ectodermal dysplasia +
reducing body myopathy 1A
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
Rubinstein-Taybi syndrome +
scalp-ear-nipple syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Seres-Santamaria Arimany Muniz Syndrome
spondylocostal dysostosis +
Spondylospinal Thoracic Dysostosis
syndromic microphthalmia 2
Taurodontia, Absent Teeth, Sparse Hair
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
X-linked chondrodysplasia punctata 2 +
X-linked dominant hypophosphatemic rickets
X-linked endothelial corneal dystrophy
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