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Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
ALZAHRANI-KUWAHARA SYNDROME
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
Atonic-Astatic Syndrome of Foerster
Attention Deficit and Disruptive Behavior Disorders +
Autoinflammation with Arthritis and Dyskeratosis
autosomal recessive intellectual developmental disorder 73
Axenfeld-Rieger syndrome type 1
Baraitser-Winter syndrome +
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
blepharophimosis, ptosis, and epicanthus inversus syndrome +
Bloch-Sulzberger syndrome +
brachycephaly, trichomegaly, and developmental delay
Brachytelephalangy Characteristic Facies Kallmann
Braddock Carey Syndrome +
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
Bryant-Li-Bhoj Neurodevelopmental Syndrome +
Cardioacrofacial Dysplasia +
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Carnitine Acetyltransferase Deficiency
cerebellofaciodental syndrome
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Child Behavior Disorders +
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 17q11.2 deletion syndrome
chromosome 5p13 duplication 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
cold-induced sweating syndrome +
combined oxidative phosphorylation deficiency 3
Combined Pituitary Hormone Deficiency 1
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
CONGENITAL DISORDER OF DEGLYCOSYLATION 2
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Micromelic Dysplasia with Dislocation of Radius +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cortical Blindness, Retardation, and Postaxial Polydactyly
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Cutaneous Hemangiomatosis with Associated Features
Cyprus Facial Neuromusculoskeletal Syndrome
Deafness-Craniofacial Syndrome
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
developmental coordination disorder
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
developmental delay, dysmorphic facies, and brain anomalies
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
Developmental Disabilities +
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +
diphthamide deficiency syndrome 2
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal 10q deletion syndrome
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
Ectrodactyly Cardiopathy Dysmorphism
Edinburgh Malformation Syndrome
ENDOVE SYNDROME, LIMB-BRAIN TYPE
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
Faciocardiomelic Syndrome
Familial Dyskeratotic Comedones
Familial Popliteal Pterygium Syndrome
Feingold Trainer Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
fetal encasement syndrome
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
GABRIELE-DE VRIES SYNDROME
Gingival Fibromatosis with Distinctive Facies
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
glycogen storage disease IX +
Glycosylphosphatidylinositol Biosynthesis Defect 25
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
Grubben de Cock Borghgraef Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Hengel-Maroofian-Schols syndrome
Hereditary Benign Intraepithelial Dyskeratosis
Hereditary Sclerosing Poikiloderma +
hereditary spastic paraplegia 23
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations
Hypohidrosis with Abnormal Palmar Dermal Ridges
hypomyelinating leukodystrophy 8
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
IMAGAWA-MATSUMOTO SYNDROME
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
Infantile Hypotonia with Psychomotor Retardation +
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +
inflammatory poikiloderma with hair abnormalities and acral keratoses
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
intellectual developmental disorder with ocular anomalies and distinctive facial features
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
intellectual disability +
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
Iris Dysplasia Hypertelorism Deafness
Kahn-Kahn-Katsanis Syndrome
Kaufman oculocerebrofacial syndrome
Kaya-Barakat-Masson Syndrome
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Kozlowski Rafinski Klicharska Syndrome
Kozlowski-Krajewska Syndrome
LESSEL-KREIENKAMP SYNDROME
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
Lopes-Maciel-Rodan Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
macrocephaly-autism syndrome
Malocclusion and Short Stature
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
Marfanoid Mental Retardation Syndrome, Autosomal
McPherson Clemens Syndrome
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Microcephaly Deafness Syndrome
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
multiple benign circumferential skin creases on limbs +
multiple congenital anomalies-hypotonia-seizures syndrome +
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Pterygium Syndrome, X-Linked
Multiple Self-healing Palmoplantar Carcinoma
Myoectodermal Gonadal Dysgenesis Syndrome
Nabais Sa-de Vries Syndrome, Type 1
Nabais Sa-de Vries Syndrome, Type 2
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency 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
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
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 thin corpus callosum
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 GROSS MOTOR AND SPEECH DELAY
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 An autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Caused by homozygous or compound heterozygous mutation in the PGM2L1 gene on chromosome 11q13.
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, 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 hypotonia, stereotypic hand movements, and impaired 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 dysmorphic facies
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
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Night Blindness Skeletal Anomalies Unusual Facies
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
O'Donnell-Luria-Rodan Syndrome
Oculocerebrocutaneous Syndrome
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Oculoskeletodental Syndrome
Ohdo syndrome, SBBYS variant
Okur-Chung Neurodevelopmental Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
Osteolysis Syndrome, Recessive
osteosclerotic metaphyseal dysplasia
Otoonychoperoneal Syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
Palant Cleft Palate Syndrome
Parenti-Mignot Neurodevelopmental Syndrome
Partington Anderson Syndrome
Patternless Dermal Ridges
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
pervasive developmental disorder +
Pfeiffer Palm Teller Syndrome
Pierre Robin Sequence with Facial and Digital Anomalies
Pilarowski-Bjornsson Syndrome
poikiloderma with neutropenia
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
Progeroid Facial Appearance with Hand Anomalies
Progressive Encephalopathy with Amyotrophy and Optic Atrophy
pseudoxanthoma elasticum +
Radioulnar Synostosis Retinal Pigment Abnormalities
Ramos Arroyo Clark Syndrome
Reactive Attachment Disorder
Renal and Mullerian Duct Hypoplasia +
Renal Dysplasia - Limb Defects Syndrome
Ridges-off-the-end Syndrome
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Roifman-Chitayat Syndrome
Rothmund-Thomson syndrome +
scalp-ear-nipple syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
separation anxiety disorder
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Shprintzen Omphalocele Syndrome
Silver-Russell Syndrome 3
Skin/Hair/Eye Pigmentation, Variation In, 1
Skin/Hair/Eye Pigmentation, Variation In, 10
Skin/Hair/Eye Pigmentation, Variation In, 11
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
Skin/Hair/Eye Pigmentation, Variation In, 3
Skin/Hair/Eye Pigmentation, Variation In, 4
Skin/Hair/Eye Pigmentation, Variation In, 5
Skin/Hair/Eye Pigmentation, Variation In, 6
Skin/Hair/Eye Pigmentation, Variation In, 7
Skin/Hair/Eye Pigmentation, Variation In, 8
Skraban-Deardorff Syndrome
Snijders Blok-Campeau Syndrome
Snijders Blok-Fisher Syndrome
Spastic Paraplegia and Psychomotor Retardation with or without Seizures
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Spinocerebellar Ataxia with Dysmorphism
spondyloepiphyseal dysplasia tarda with characteristic facies
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stankiewicz-Isidor Syndrome
stereotypic movement disorder +
Stolerman neurodevelopmental syndrome
syndromic X-linked intellectual disability Turner type
Tessadori-van Haaften Neurodevelopmental Syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Thomas Jewett Raines Syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
trichorhinophalangeal syndrome type III
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
Urban Schosser Spohn Syndrome
Uruguay faciocardiomusculoskeletal syndrome
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
White Forelock with Malformations
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Yuan-Harel-Lupski Syndrome
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