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Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
acromesomelic dysplasia +
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Al Gazali Khidr Prem Chandran Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amish Lethal Microcephaly
Aphalangia Syndactyly Microcephaly
Asparagine Synthetase Deficiency
Asymmetric Polymicrogyria
Asymmetric Short Stature Syndrome
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant intellectual developmental disorder 6
autosomal dominant microcephaly
Bainbridge-Ropers syndrome
Baraitser Rodeck Garner syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
Bellini Chiumello Rimoldi Syndrome
Bhaskar Jagannathan Syndrome
bilateral frontal polymicrogyria
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral perisylvian polymicrogyria +
Bird Headed Dwarfism Montreal Type
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
Borjeson-Forssman-Lehmann syndrome
Boudhina Yedes Khiari syndrome
Brachydactylous Dwarfism Mseleni Type
Brachydactyly, Type A2, With Microcephaly
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Braddock Carey Syndrome +
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardiofacioneurodevelopmental Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cerebroretinal Microangiopathy with Calcifications and Cysts +
Chitty Hall Baraitser Syndrome
Chondrodysplasia Calcificans Metaphysealis
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q13.3 microdeletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
cleft palate, cardiac defects, and intellectual disability
congenital hypothyroidism +
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Copper Deficiency, Familial Benign
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Crumpled Helices and Small Mouth
Curatolo Cilio Pessagno Syndrome
Daish Hardman Lamont Syndrome
De Sanctis-Cacchione syndrome
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
diphthamide deficiency syndrome +
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyschondrosteosis and Nephritis
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Fallot Complex with Severe Mental and Growth Retardation
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Dwarfism with Muscle Spasms
Familial Infantile Convulsions and Paroxysmal Choreoathetosis
Familial Synovial Chondromatosis with Dwarfism
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Fetal Growth Retardation +
Fontaine Progeroid Syndrome
Forsythe-Wakeling Syndrome
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
GARG-MISHRA PROGEROID SYNDROME
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
geroderma osteodysplasticum
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 Hormone Insensitivity with Immune Dysregulation +
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Heme Oxygenase 1 Deficiency
hereditary spastic paraplegia 9A
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
Hoyeraal Hreidarsson Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
Hyperleucine-Isoleucinemia
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Hypospadias-Mental Retardation Syndrome
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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 abnormal behavior, microcephaly, and short stature
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
isolated growth hormone deficiency +
Johanson-Blizzard syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kozlowski Rafinski Klicharska Syndrome
Kuster Majewski Hammerstein Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Leri-Weill dyschondrosteosis
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
linear skin defects with multiple congenital anomalies 2
MacDermot Winter Syndrome
Macrosomia Adiposa Congenita
Malocclusion and Short Stature
mandibulofacial dysostosis, Guion-Almeida type
MARBACH-RUSTAD PROGEROID SYNDROME
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Mental and Growth Retardation with Amblyopia
Mental Retardation Mietens Weber Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metatropic Dwarfism, Type II
Methionine Malabsorption Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Nonsyndromal
Microcephaly Pontocerebellar Hypoplasia Dyskinesia
Microcephaly Seizures Genital Hypoplasia
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
Microcephaly with Chorioretinopathy, Autosomal Dominant
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly with Simplified Gyral Pattern
Microcephaly with Spastic Quadriplegia
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures MSSP is caused by homozygous or compound heterozygous mutation in the RTTN gene on chromosome 18q22. (OMIM)
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mitochondrial Myopathy with Lactic Acidosis
Mollica-Pavone-Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Muller Barth Menger Syndrome
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multiple congenital anomalies-hypotonia-seizures syndrome +
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myoclonic-atonic epilepsy
Nabais Sa-de Vries Syndrome, Type 1
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
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 Progressive Microcephaly, Spasticity, and Brain Anomalies
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
Nijmegen Breakage Syndrome-Like Disorder
Occipital Cortical Malformations
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
Osteolysis Syndrome, Recessive
otospondylomegaepiphyseal dysplasia, autosomal recessive
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Partington Anderson Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Perniola Krajewska Carnevale Syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pili Torti, Developmental Delay, Neurological Abnormalities
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome
Premature Aging, Okamoto Type
Primary Aldosteronism, Seizures, and Neurologic Abnormalities
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Proportionate Dwarfism with Hip Dislocation
Pseudodiastrophic Dysplasia
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
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
Rommen Mueller Sybert Syndrome
Rowley-Rosenberg Syndrome
Sammartino De Crecchio Syndrome
Say-Barber-Miller Syndrome
Schaap-Taylor-Baraitser Syndrome
Schimke X-Linked Mental Retardation Syndrome
Seckel Like Syndrome Type Buebel
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
severe combined immunodeficiency 124
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Limb Dwarfism Al Gazali Type
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
Short Stature Syndrome, Brussels Type
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities 1
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
SHOX-related short stature
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Slavotinek Pike Mills Hurst Syndrome
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
spastic tetraplegia, thin corpus callosum, and progressive microcephaly
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stern Lubinsky Durrie Syndrome
syndromic microphthalmia 13
syndromic microphthalmia 8
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Tatton-Brown-Rahman syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
THAUVIN-ROBINET-FAIVRE SYNDROME
Theodor Hertz Goodman Syndrome
Thoraco Limb Dysplasia Rivera Type
Thumb Agenesis, Short Stature, and Immunodeficiency
Total Anonychia with Microcephaly
Tranebjaerg Svejgaard syndrome
Tryptophanuria with Dwarfism
unilateral focal polymicrogyria
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
Volcke Soekarman Syndrome
Warburton Anyane Yeboa Syndrome
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 2
Wellesley Carmen French Syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winship Viljoen Leary Syndrome
X-linked mental retardation Gustavson type
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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