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22q11 Deletion Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Alkuraya-Kucinskas syndrome
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
ALZAHRANI-KUWAHARA SYNDROME
Angel Shaped Phalangoepiphyseal Dysplasia
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
Arthrogryposis Multiplex Congenita Whistling Face
Asymmetric Short Stature Syndrome
Attention Deficit and Disruptive Behavior Disorders +
Axenfeld-Rieger syndrome type 1
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
Baby Rattle Pelvis Dysplasia
Baraitser-Winter syndrome +
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome +
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Bryant-Li-Bhoj Neurodevelopmental Syndrome +
Camptodactyly Syndrome Guadalajara Type 2
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cardioacrofacial Dysplasia +
Cardiofacioneurodevelopmental Syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cervical Vertebral Dysplasia
Child Behavior Disorders +
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 13q14 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq27.3-q28 Duplication Syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
combined oxidative phosphorylation deficiency 2
Conductive Deafness with Ptosis and Skeletal Anomalies
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
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 +
developmental dysplasia of the hip +
Diaphanospondylodysostosis
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +
diphthamide deficiency syndrome 1
Disproportionate Tall Stature
distal arthrogryposis type 6
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
Dysplasia Epiphysealis Hemimelica +
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Faciocardiomelic Syndrome
fetal encasement syndrome
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Fryns Hofkens Fabry Syndrome
GABRIELE-DE VRIES SYNDROME
Game Friedman Paradice Syndrome
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
Humeroradial Synostosis with Craniofacial Anomalies
hypomyelinating leukodystrophy 8
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
IMAGAWA-MATSUMOTO SYNDROME
immunodeficiency-centromeric instability-facial anomalies syndrome +
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
intellectual disability +
Jequier Kozlowski Skeletal Dysplasia
Jones Hersh Yusk Syndrome
Kahn-Kahn-Katsanis Syndrome
Kantaputra Gorlin Syndrome
Kaya-Barakat-Masson Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Larsen-like syndrome B3GAT3 type
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
LESSEL-KREIENKAMP SYNDROME
Lethal Bone Dysplasia, Holmgren Type
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
linear skin defects with multiple congenital anomalies 2
Lissencephaly Type III and Bone Dysplasia
Lopes-Maciel-Rodan Syndrome
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
Macroepiphyseal Dysplasia, McAlister Coe Type
mandibuloacral dysplasia +
Mandibuloacral Dysplasia Progeroid Syndrome
mandibuloacral dysplasia type B lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
Maxillofacial Abnormalities +
Membranous Cranial Ossification, Delayed
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelic Limb Shortening and Bowing
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
Miura type epiphyseal chondrodysplasia
Morillo-Cucci Passarge Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
Mullegama-Klein-Martinez syndrome
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
Nablus Mask-Like Facial Syndrome
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 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 A disease characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Caused by heterozygous mutation in the HNRNPH1 gene on chromosome 5q35.
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 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 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 DYSMORPHIC FACIES
neurodevelopmental disorder with hypotonia and speech delay
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
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, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
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 IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
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 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 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
Neurofaciodigitorenal Syndrome
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
nevoid basal cell carcinoma syndrome +
Noonan syndrome with multiple lentigines +
O'Donnell-Luria-Rodan Syndrome
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculodentodigital dysplasia +
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Oculootofacial Dysplasia +
Okur-Chung Neurodevelopmental Syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Parenti-Mignot Neurodevelopmental Syndrome
Patterson Pseudoleprechaunism Syndrome
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
pervasive developmental disorder +
Pilarowski-Bjornsson Syndrome
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Posterior Exchondrosis of Pinna
Preauricular Fistulae, Congenital
Pseudoaminopterin Syndrome
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radius Absent Anogenital Anomalies
Reactive Attachment Disorder
Reardon Hall Slaney syndrome
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
Ritscher-Schinzel syndrome +
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein-Taybi syndrome +
Schaefer Stein Oshman Syndrome
Schinzel Giedion syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
separation anxiety disorder
Short Stature and Facioauriculothoracic Malformations
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-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
SHOX-related short stature
Shwachman-Diamond Syndrome 2
Silver-Russell syndrome +
Simosa Cranio Facial 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
Skraban-Deardorff Syndrome
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
Splenogonadal Fusion with Limb Defects and Micrognathia
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloocular Syndrome, Autosomal Recessive
Spranger Schinzel Myers Syndrome
Stankiewicz-Isidor Syndrome
stereotypic movement disorder +
Stolerman neurodevelopmental syndrome
Stoll Levy Francfort Syndrome
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Tollner Horst Manzke Syndrome
trichodontoosseous syndrome
Trichohepatoneurodevelopmental Syndrome
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Urioste Martinez-Frias Syndrome
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
Van Bogaert-Hozay Syndrome
Vertebral Body Fusion Overgrowth
Viljoen Kallis Voges Syndrome
vitamin D-dependent rickets +
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Winter Shortland Temple Syndrome
Yuan-Harel-Lupski Syndrome
Zimmerman Laband Syndrome +
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