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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
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
Aphalangia Syndactyly Microcephaly
autosomal recessive nonsyndromic deafness 51
autosomal recessive nonsyndromic deafness 55
Bainbridge-Ropers syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
Braddock Carey Syndrome +
Calloso-Genital Dysplasia
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Charcot-Marie-Tooth disease X-linked recessive 5
Chitty Hall Baraitser Syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma of Macula and Skeletal Anomalies
Coloboma of Macula with Type B Brachydactyly
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Congenital Moderate Neural Deafness
Congenital Progeroid Syndrome, Petty Type
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Daish Hardman Lamont Syndrome
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53
Deafness, Nephritis, Anorectal Malformation
Deafness, Neurosensory, Autosomal Recessive 47
deafness-dystonia-optic neuronopathy syndrome
diphthamide deficiency syndrome 1
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dyschondrosteosis and Nephritis
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Fetal Growth Retardation +
Forsythe-Wakeling Syndrome
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
Groll Hirschowitz 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
Heme Oxygenase 1 Deficiency
Hereditary Macular Coloboma
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Hittner Hirsch Kreh Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
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
Isolated Microphthalmia with Coloboma +
Johanson-Blizzard syndrome
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
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Malocclusion and Short Stature
Marles Greenberg Persaud Syndrome
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
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
Microphthalmia and Mental Deficiency
Microphthalmia Associated with Colobomatous Cyst
Microphthalmia, Cataracts, and Iris Abnormalities
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
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
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nasopalpebral Lipoma Coloboma Syndrome
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
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 short stature, prominent forehead, and feeding difficulties
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Osteolysis Syndrome, Recessive
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pili Torti, Developmental Delay, Neurological Abnormalities
Premature Aging, Okamoto Type
Progeria Short Stature Pigmented Nevi
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications 1
Reardon Wilson Cavanagh Syndrome
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Ruzicka Goerz Anton syndrome
Santos Mateus Leal Syndrome
Schaap Taylor Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
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
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Pakistani type
spondylometaphyseal dysplasia corner fracture type
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 14
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
Thumb Agenesis, Short Stature, and Immunodeficiency
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
X-linked mental retardation-hypotonic facies syndrome-1
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Zerres Rietschel Majewski Syndrome
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