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Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Aicardi-Goutieres syndrome +
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Amish Lethal Microcephaly
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
Aphalangia Syndactyly Microcephaly
Asparagine Synthetase Deficiency
Ataxia-Microcephaly-Cataract Syndrome
autosomal dominant disease +
autosomal dominant microcephaly +
autosomal recessive disease +
Basel-Vanagaite-Smirin-Yosef syndrome
Beaulieu-Boycott-Innes Syndrome
blepharophimosis, ptosis, and epicanthus inversus syndrome +
Boudhina Yedes Khiari syndrome
Brachydactyly, Type A2, With Microcephaly
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Branchial Arch Syndrome X-Linked
Bullous Dystrophy, Hereditary Macular Type
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly, Complex
Cardiofacioneurodevelopmental Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Chromosomal Instability with Tissue-Specific Radiosensitivity
chromosome 15q26-qter deletion syndrome
chromosome 17p13.1 deletion syndrome
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Deafness, and Oligodontia
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
congenital vertical talus
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
Craniosynostosis, Adelaide Type
Daneman Davy Mancer Syndrome
Deafness, Congenital Onychodystrophy, Recessive Form
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 1C
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ellis Yale Winter Syndrome
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
exudative vitreoretinopathy 4
familial adenomatous polyposis +
familial Mediterranean fever +
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
focal segmental glomerulosclerosis 3
Forsythe-Wakeling Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
hand-foot-genital syndrome
Hersh Podruch Weisskopk Syndrome
Heyn-Sproul-Jackson Syndrome
Hoyeraal Hreidarsson Syndrome
hypertelorism, microtia, facial clefting syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
Hypospadias-Mental Retardation Syndrome
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature
Kaufman oculocerebrofacial syndrome
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
MacDermot Winter Syndrome
Mammary-Digital-Nail Syndrome
mandibulofacial dysostosis, Guion-Almeida type
Marfanoid Habitus with Microcephaly and Glomerulonephritis
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Cervical Spine Fusion Anomalies
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 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
Microcephaly-Capillary Malformation Syndrome
Microcephaly-Micromelia Syndrome
Microphthalmia and Mental Deficiency
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
Mononen-Karnes-Senac syndrome
Monophalangy of Great Toe
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
Nabais Sa-de Vries Syndrome, Type 1
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures
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, CATARACTS, AND RENAL ABNORMALITIES
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
Nicolaides Baraitser Syndrome
Nijmegen Breakage Syndrome-Like Disorder
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partington Anderson Syndrome
Pfeiffer Tietze Welte Syndrome
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Preaxial Polydactyly II +
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
Radial Defect Robin Sequence
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ray Peterson Scott Syndrome
Richieri Costa Guion-Almeida Syndrome
Sammartino De Crecchio Syndrome
Sandhaus Ben-Ami Syndrome
Say Barber Miller Syndrome
Schimke X-Linked Mental Retardation Syndrome
Second Metatarsal-Metacarpal Syndrome
Secretory Diarrhea, Myopathy, and Deafness
Seizures, Cortical Blindness, and Microcephaly Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
Silengo Lerone Pelizza 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
Split Hand, Split Foot, Nystagmus
split hand-foot malformation 1 with sensorineural hearing loss
spondyloepimetaphyseal dysplasia, Genevieve-type
Stoll Alembik Dott Syndrome
Symphalangism with Multiple Anomalies of Hands and Feet
syndromic microphthalmia 1
syndromic microphthalmia 10
syndromic microphthalmia 11
syndromic microphthalmia 12
syndromic microphthalmia 13
syndromic microphthalmia 14
syndromic microphthalmia 2
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic microphthalmia 8 A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)
syndromic microphthalmia 9
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Shrimpton type
Synpolydactyly with Foot Anomalies
tarsal-carpal coalition syndrome +
terminal osseous dysplasia
thrombophilia due to thrombomodulin defect
Total Anonychia with Microcephaly
trichorhinophalangeal syndrome type III
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Ulnar Hypoplasia Lobster Claw Deformity of Feet
Warburton Anyane Yeboa Syndrome
Weill-Marchesani syndrome +
Winship Viljoen Leary Syndrome
Zerres Rietschel Majewski Syndrome
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