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Abnormal Neutrophil Chemotactic Response
acrocapitofemoral dysplasia
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
acromesomelic dysplasia +
acromesomelic dysplasia, Grebe type
adenosine deaminase deficiency
Alkuraya-Kucinskas syndrome
ALZAHRANI-KUWAHARA SYNDROME
APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
arthrogryposis multiplex congenita +
asphyxiating thoracic dystrophy +
Attention Deficit and Disruptive Behavior Disorders +
bone development disease +
bone inflammation disease +
bone remodeling disease +
bone resorption disease +
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Bryant-Li-Bhoj Neurodevelopmental Syndrome +
calvarial doughnut lesions with bone fragility
Camurati-Engelmann disease +
Cardiofacioneurodevelopmental Syndrome
Cartilage Hair Hypoplasia Like Syndrome
cartilage-hair hypoplasia
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Child Behavior Disorders +
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
chondrodysplasia Blomstrand type
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
Chromosome Xq27.3-q28 Duplication Syndrome
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
Cleidorhizomelic Syndrome
Cloverleaf Skull Micromelia Thoracic Dysplasia
Collagenopathy, Type 2 Alpha 1
Coloboma of Alar-Nasal Cartilages with Telecanthus
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Congenital Absence of Gluteal Muscles
Congenital Absence of the Sternocleidomastoid Muscle
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Congenital Hip Dislocation +
Congenital Limb Deformities +
Congenital Micromelic Dysplasia with Dislocation of Radius +
Craniofacial Abnormalities +
Czech Dysplasia, Metatarsal Type
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
developmental coordination disorder
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
Developmental Disabilities +
diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
Dyschondrosteosis and Nephritis
Ehlers-Danlos syndrome spondylodysplastic type 3
EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
Ellis-Van Creveld syndrome +
Endocrine Bone Diseases +
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epiphyseal Dysplasia, Baumann Type
Familial Osteodysplasia, Anderson Type
Faye-Petersen Ward Carey Syndrome
Female Pseudohermaphroditism with Skeletal Anomalies
Fibrous Dysplasia of Bone +
fibular collateral ligament bursitis
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
Fraser Jequier Chen Syndrome
Frontootopalatodigital Osteodysplasia
GABRIELE-DE VRIES SYNDROME
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
graft-versus-host disease +
Growth Hormone Insensitivity with Immune Dysregulation +
hemolytic disease of the fetus +
Hengel-Maroofian-Schols syndrome
Ho Kaufman Mcalister Syndrome
Hyperostosis Frontalis Interna
hypersensitivity reaction disease +
hypertrichotic osteochondrodysplasia Cantu type
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 8
hypoparathyroidism-retardation-dysmorphism syndrome
IMAGAWA-MATSUMOTO SYNDROME
Immune Reconstitution Inflammatory Syndrome
Immunoproliferative Disorders +
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infectious Bone Diseases +
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Inhibition of Lymphoblastic Transformation
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
intellectual disability +
Iridogoniodysgenesis and Skeletal Anomalies
janus kinase-3 deficiency
Jeffries-Lakhani Neurodevelopmental Syndrome
Jequier Kozlowski Skeletal Dysplasia
Kahn-Kahn-Katsanis Syndrome
Kaya-Barakat-Masson Syndrome
Kozlowski Tsuruta Taki Syndrome
Laplane Fontaine Lagardere Syndrome
Leri-Weill dyschondrosteosis
LESSEL-KREIENKAMP SYNDROME
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Lopes-Maciel-Rodan Syndrome
lymphatic system disease +
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
membranoproliferative glomerulonephritis +
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Metabolic Bone Diseases +
Metaphyseal Anadysplasia +
Metaphyseal Chondrodysplasia +
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dwarfism, Type II
MHC class II deficiency +
Microcephalic Osteodysplastic Primordial Dwarfism +
microcephaly, short stature, and limb abnormalities
microcephaly-micromelia syndrome
Micromelic Dwarfism Fryns Type
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
Miura type epiphyseal chondrodysplasia
Monocyte Chemotactic Disorder
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
multiple epiphyseal dysplasia +
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
neurodevelopmental disorder with hypotonia and speech delay
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
neurodevelopmental disorder with involuntary movements
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
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, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
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 CORTICAL ATROPHY
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental Disorder with Seizures and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
O'Donnell-Luria-Rodan Syndrome
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Okur-Chung Neurodevelopmental Syndrome
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteoarthritis with Mild Chondrodysplasia
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
osteogenesis imperfecta +
Osteootohepatoenteric Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Parenti-Mignot Neurodevelopmental Syndrome
Pelvis-Shoulder Dysplasia
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
pervasive developmental disorder +
Pilarowski-Bjornsson Syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
progressive pseudorheumatoid arthropathy of childhood
Radiation Sensitivity of Natural Killer Activity
Reactive Attachment Disorder
recombinase activating gene 1 deficiency
recombinase activating gene 2 deficiency
Reticuloendotheliosis, X-Linked
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Sacral Agenesis with Vertebral Anomalies
Sacrococcygeal Dysgenesis Association
Schaefer Stein Oshman Syndrome
schneckenbecken dysplasia
Schwartz-Jampel syndrome 1
Sclerosing Bone Dysplasia, Mental Retardation
separation anxiety disorder
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
severe combined immunodeficiency with sensitivity to ionizing radiation
Severe Combined Immunodeficiency, Atypical
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +
Short Stature Syndrome, Brussels Type
Short Stature with Nonspecific Skeletal Abnormalities
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
Silverman-Handmaker type dyssegmental dysplasia
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
Sketetal Dysplasia Coarse Facies Mental Retardation
Skraban-Deardorff Syndrome
Slipped Capital Femoral Epiphyses
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
Spinal Dysplasia, Anhalt Type
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondyloenchondrodysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
spondylometaphyseal dysplasia +
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Spondylospinal Thoracic Dysostosis
Stankiewicz-Isidor Syndrome
stereotypic movement disorder +
Stolerman neurodevelopmental syndrome
Stuve-Wiedemann Syndrome +
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations
Teebi Naguib Al Awadi syndrome
terminal osseous dysplasia
Tessadori-van Haaften Neurodevelopmental Syndrome +
thanatophoric dysplasia +
Thoracolaryngopelvic Dysplasia
Thrombocytopenic Purpura +
tibial muscular dystrophy
Tracheobronchopathia Osteoplastica
Tricho-Dento-Osseous Syndrome 1
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trochlea of the Humerus, Aplasia of
Ulna Metaphyseal Dysplasia Syndrome
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
Verloes Van Maldergem Marneffe Syndrome
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Weissenbacher-Zweymuller syndrome +
Wolcott-Rallison syndrome
X-linked severe combined immunodeficiency
Yuan-Harel-Lupski Syndrome
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