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Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
aminoglycoside-induced deafness
Aphalangia Syndactyly Microcephaly
Ataxia, Deafness, and Cardiomyopathy
Athabaskan brainstem dysgenesis syndrome
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal dominant nonsyndromic deafness +
autosomal recessive nonsyndromic deafness +
autosomal recessive spinocerebellar ataxia 19
autosomal-mitochondrial sensorineural deafness
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Bainbridge-Ropers syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Intraventricular Septal Defect, and Deafness
Braddock Carey Syndrome +
Brown-Vialetto-Van Laere syndrome +
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar Ataxia and Hypergonadotropic Hypogonadism
Cerebellar Ataxia and Neurosensory Deafness
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease X-linked recessive 4
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
Chudley-Mccullough syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Combined Pituitary Hormone Deficiency 3
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Deafness with Total Albinism
Congenital Ectodermal Dysplasia with Hearing Loss
Congenital Progeroid Syndrome, Petty Type
corneal dystrophy-perceptive deafness syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
craniofacial-deafness-hand syndrome
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Daish Hardman Lamont Syndrome
Deafness, Progressive High-Tone Neural
Deafness-Infertility Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
dilated cardiomyopathy 1J
diphthamide deficiency syndrome 1
distal arthrogryposis type 6
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 3, Autosomal Recessive
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
dominant optic atrophy plus syndrome
Dyschondrosteosis and Nephritis
Ectodermal Dysplasia and Neurosensory Deafness
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Familial Visceral Neuropathy 2, Autosomal Recessive
Fetal Growth Retardation +
Fitzsimmons Walson Mellor Syndrome
Forsythe-Wakeling Syndrome
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Game Friedman Paradice Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
glycogen storage disease IX +
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Hearing Loss, Cisplatin-Induced
Hearing Loss, Noise-Induced
Hearing Loss, Unilateral Sensorineural
Heme Oxygenase 1 Deficiency
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
high myopia-sensorineural deafness syndrome
High-Frequency Hearing Loss +
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
Homozygous 11p15-p14 Deletion Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Johanson-Blizzard syndrome
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leri-Weill dyschondrosteosis
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
Mental and Growth Retardation with Amblyopia
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Microcephaly with Cervical Spine Fusion Anomalies
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microdontia Hypodontia Short Stature
Milner Khallouf Gibson Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica-Pavone-Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
Nephropathy, Deafness, and Hyperparathyroidism
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with spasticity and poor growth
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Nonsyndromic Sensorineural Hearing Loss +
ocular albinism with sensorineural deafness
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
Osteolysis Syndrome, Recessive
Otofacioosseous-Gonadal Syndrome
otospondylomegaepiphyseal dysplasia, autosomal recessive
palmoplantar keratoderma-deafness syndrome
Paragangliomas with Sensorineural Hearing Loss
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pigmentary Retinopathy and Sensorineural Deafness
Pili Torti, Developmental Delay, Neurological Abnormalities
Premature Aging, Okamoto Type
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Progeria Short Stature Pigmented Nevi
Progressive Nephropathy with Deafness
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Wilson Cavanagh Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinitis Pigmentosa Inversa with Deafness
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Robinson Miller Bensimon Syndrome
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Sensorineural Deafness and Migraine
Sensorineural Deafness with Hypertrophic Cardiomyopathy
Sensorineural Deafness with Mild Renal Dysfunction
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
SHOX-related short stature
Silver-Russell Syndrome 3
Slavotinek Pike Mills Hurst Syndrome
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
split hand-foot malformation 1 with sensorineural hearing loss
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Tatton-Brown-Rahman syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Treft Sanborn Carey Syndrome
Tunglang Savage Bellman Syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Wolfram syndrome, mitochondrial form
X-linked mental retardation-hypotonic facies syndrome-1
X-linked nonsyndromic deafness +
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Zerres Rietschel Majewski Syndrome
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