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Alves Castelo dos Santos Syndrome
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
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita Whistling Face
arthrogryposis multiplex congenita-1
arthrogryposis multiplex congenita-3
arthrogryposis multiplex congenita-4
arthrogryposis multiplex congenita-5
arthrogryposis multiplex congenita-6
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Arthrogryposis, Impaired Intellectual Development, and Seizures
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Arthrogryposis, X-Linked, Type V
Boylan Dew Greco Syndrome
Camptodactyly-Ichthyosis Syndrome
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
cardiofaciocutaneous syndrome +
cartilage-hair hypoplasia
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cerebellar Ataxia and Ectodermal Dysplasia
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Congenital Arthrogryposis with Anterior Horn Cell Disease
Congenital Ectodermal Dysplasia with Hearing Loss
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Congenital Neuropathy with Arthrogryposis Multiplex
cranioectodermal dysplasia +
Cyprus Facial Neuromusculoskeletal Syndrome
Deafness with Anhidrotic Ectodermal Dysplasia
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
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
Ehlers-Danlos syndrome musculocontractural type 2
Ellis-Van Creveld syndrome +
Euhidrotic Ectodermal Dysplasia
fetal akinesia deformation sequence syndrome +
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
hereditary neuropathy with liability to pressure palsies
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
hypohidrotic ectodermal dysplasia +
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Jequier Kozlowski Skeletal Dysplasia
Johanson-Blizzard syndrome
Johnston Aarons Schelley Syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer Syndrome
lethal congenital contracture syndrome +
linear skin defects with multiple congenital anomalies 2
Massa Casaer Ceulemans Syndrome
Minicore Myopathy, Antenatal Onset, with Arthrogryposis
Multiple Pterygium Syndrome, Lethal Type +
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
neurogenic-type arthrogryposis multiplex congenita-2
nonsyndromic aplasia cutis congenita
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Papillon-Lefevre disease +
Pelvic Dysplasia Arthrogryposis of Lower Limbs
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
pure hair and nail ectodermal dysplasia +
Ray Peterson Scott Syndrome
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge syndrome
Seres-Santamaria Arimany Muniz Syndrome
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spranger Schinzel Myers Syndrome
Taurodontia, Absent Teeth, Sparse Hair
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
Ventriculomegaly and Arthrogryposis
X-linked Microhydranencephaly
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