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Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Hirschsprung Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alves Castelo dos Santos Syndrome
amelogenesis imperfecta +
Ameloonychohypohidrotic Syndrome
Angel Shaped Phalangoepiphyseal Dysplasia
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
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
Arthrogryposis and Ectodermal Dysplasia
autosomal recessive congenital ichthyosis 11
autosomal recessive woolly hair 3
Baby Rattle Pelvis Dysplasia
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome
Brachydactyly Type A5 Nail Dysplasia
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
cardiofaciocutaneous syndrome +
cartilage-hair hypoplasia
Cerebellar Ataxia and Ectodermal Dysplasia
Cervical Vertebral Dysplasia
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
chronic mucocutaneous candidiasis +
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
cleft lip-palate-ectodermal dysplasia syndrome
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia
congenital hypotrichosis with juvenile macular dystrophy
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
cranioectodermal dysplasia +
craniolenticulosutural dysplasia
Deafness Conductive Ptosis Skeletal Anomalies
Deafness with Anhidrotic Ectodermal Dysplasia
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Disproportionate Tall Stature
Double Nail for Fifth Toe
Dysplasia Epiphysealis Hemimelica +
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 +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
Epidermolysis Bullosa Simplex 5D with Nail Dystrophy
Euhidrotic Ectodermal Dysplasia
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Fryns Hofkens Fabry Syndrome
Gurrieri Sammito Bellussi Syndrome
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hay Wells Syndrome Recessive Type
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
hypohidrotic ectodermal dysplasia +
Hypotrichosis and Recurrent Skin Vesicles
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
hypotrichosis-lymphedema-telangiectasia syndrome +
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
junctional epidermolysis bullosa with pyloric atresia
Kantaputra Gorlin Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Ladda Zonana Ramer syndrome
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
Lenz-Majewski hyperostotic dwarfism
Lethal Bone Dysplasia, Holmgren Type
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
linear skin defects with multiple congenital anomalies 2
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Membranous Cranial Ossification, Delayed
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
nevoid basal cell carcinoma syndrome +
Nicolaides Baraitser Syndrome
nonsyndromic aplasia cutis congenita
Oculodentodigital Dysplasia, Autosomal Recessive
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
Palmoplantar Keratoderma, Spastic Paralysis
Papillon-Lefevre disease +
Patterson Pseudoleprechaunism Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
Pfeiffer Palm Teller Syndrome
photosensitive trichothiodystrophy 1
Pinheiro Freire-Maia Miranda Syndrome
pure hair and nail ectodermal dysplasia +
Radius Absent Anogenital Anomalies
Rhizomelic Dysplasia Patterson Lowry Type
RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schopf-Schulz-Passarge syndrome
Seres-Santamaria Arimany Muniz Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
SHOX-related short stature
Shwachman-Diamond Syndrome 2
Singleton Merten Syndrome +
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia with Hypotrichosis
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
Taurodontia, Absent Teeth, Sparse Hair
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
trichodontoosseous syndrome
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
vitamin D-dependent rickets +
Wiedemann Oldigs Oppermann Syndrome
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