Teratocarcinoma-Derived growth factor 1 |
|
Microcephaly, Hypoplasia of the corpus callosum, Absent septum pellucidum |
OMIM:187395 |
Encephalomalacia, Multilocular |
|
Encephalomalacia, Microcephaly |
OMIM:225700 |
Intellectual Developmental Disorder, Autosomal Recessive 51 |
|
Microcephaly |
OMIM:616739 |
Cri du Chat Syndrome (5p deletion) |
|
Microcephaly |
DECIPHER:2 |
Microcephaly 28, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:619453 |
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
|
Microcephaly |
DECIPHER:62 |
Mental Retardation, Autosomal Recessive 28 |
|
Microcephaly |
OMIM:614347 |
Microcephaly 23, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:617985 |
Microcephaly 18, Primary, Autosomal Dominant |
|
Microcephaly |
OMIM:617520 |
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
|
Microcephaly |
DECIPHER:92 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microcephaly 7, Primary, Autosomal Recessive |
|
Microcephaly, Simplified gyral pattern |
OMIM:612703 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Microcephaly, Simplified gyral pattern |
OMIM:616080 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618351 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Oral cleft |
OMIM:611638 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... |
ORPHA:329228 |
Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Palant Cleft Palate Syndrome |
|
Exaggerated cupid's bow, Cleft palate, Short stature |
OMIM:260150 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia |
OMIM:600776 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
2q33.1 deletion syndrome |
|
Cleft palate, High palate, Short stature |
DECIPHER:51 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:613885 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Intrauterine growth retardation |
OMIM:616570 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cleft Palate, Isolated |
|
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164180 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Short stature, Cleft upper lip, Anophthalmia, Solitary median maxillary central i... |
OMIM:147250 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:120433 |
Maternal Hyperthermia-Induced Birth Defects |
|
Aplasia/Hypoplasia affecting the eye, Cleft palate, Intrauterine growth retardation, Short stature |
ORPHA:2216 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Anophthalmia |
ORPHA:1104 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:614402 |
Cerebrooculonasal Syndrome |
|
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Long philtrum, Anoph... |
ORPHA:66625 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... |
OMIM:619602 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
OMIM:248450 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Growth delay, Microphthalmia, Cleft upper lip, Anophthalmia, Deep phil... |
OMIM:206920 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Megaepiphyseal Dwarfism |
|
Cleft palate, Short stature, Severe short stature |
OMIM:249230 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Hydrolethalus |
|
Cleft palate, Microphthalmia, Anophthalmia, Gingival cleft, Bifid uvula, Unilateral cleft lip, Su... |
ORPHA:2189 |
Trisomy 13 |
|
High, narrow palate, Cleft palate, Intrauterine growth retardation, Microphthalmia, Long philtrum... |
ORPHA:3378 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Short philtrum, Anophthalmia, Everted lower lip vermilion, Thick vermilion border, Abnormal space... |
ORPHA:411986 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Cleft palate, Smooth philtrum, Intrauterine growth retardation, Short stature, Thin upper lip ver... |
OMIM:611867 |
Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
Lowry-Maclean Syndrome |
|
Cleft palate, Intrauterine growth retardation, Delayed eruption of teeth |
OMIM:600252 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... |
OMIM:226440 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Neonatal death, Cerebral atrophy, Paucity of anterior hor... |
OMIM:611890 |
Microphthalmia, Syndromic 8 |
|
Cleft palate, Microphthalmia, Cleft upper lip, Widely-spaced maxillary central incisors, Oral cleft |
OMIM:601349 |
Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Intrauterine growth retardation, An... |
ORPHA:90322 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Intrauterine growth retardation, Duodenal stenosis |
ORPHA:2470 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
ORPHA:2717 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Cerebrooculonasal Syndrome |
|
High palate, Cleft palate, U-Shaped upper lip vermilion, Anophthalmia, Solitary median maxillary ... |
OMIM:605627 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Growth delay, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Chromosome 15Q14 Deletion Syndrome |
|
Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, Everted lower lip vermilion |
OMIM:616898 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cleft palate, Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia, Tooth malposi... |
ORPHA:2250 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, High palate, Microphthalmia |
ORPHA:139471 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Cleft palate, Microphthalmia, High palate, Tooth agenesis |
ORPHA:1135 |
Hartsfield Syndrome |
|
Microphthalmia, Non-midline cleft lip, Cleft palate, Intrauterine growth retardation |
ORPHA:2117 |
Oculopalatocerebral Syndrome |
|
Cleft palate, Microphthalmia, Short stature |
OMIM:257910 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Microphthalmia |
OMIM:615877 |
Walker-Warburg Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Submucous cleft hard palate |
ORPHA:899 |
Holoprosencephaly 9 |
|
Bilateral cleft lip and palate, Cleft palate, Microphthalmia, Short philtrum, Short stature, Clef... |
OMIM:610829 |
Tetraploidy |
|
Cleft palate, Intrauterine growth retardation, Short philtrum, Aplasia/Hypoplasia affecting the eye |
ORPHA:3305 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Postnata... |
OMIM:206900 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Cleft palate, Lip pit |
ORPHA:1072 |
Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Cockayne Syndrome Type 1 |
|
Widely spaced primary teeth, Hypoplasia of the primary teeth, Anophthalmia, Enamel hypoplasia, De... |
ORPHA:90321 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Trisomy 1Q |
|
Anophthalmia, Cleft palate, Narrow mouth, Anal atresia |
ORPHA:261344 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Cleft palate, Intrauterine growth retardation |
OMIM:603194 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia |
OMIM:257100 |
Vacterl With Hydrocephalus |
|
Intrauterine growth retardation, Microphthalmia, Anophthalmia, Esophageal atresia, Anal atresia, ... |
ORPHA:3412 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:611561 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Intrauterine growth retardation, Short stature |
OMIM:601186 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, High, narrow palate, Aniridia, Long philtrum |
ORPHA:1101 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Microcephaly, Cerebral atrophy |
OMIM:610127 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Microphthalmia, Growth delay, Rectovaginal fistula, Anophthalmia,... |
ORPHA:2538 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Holoprosencephaly |
|
Microphthalmia, Bilateral cleft lip, Median cleft lip and palate, Anophthalmia, Solitary median m... |
ORPHA:2162 |
Craniofacial Microsomia |
|
Cleft palate, Microphthalmia, Wide mouth, Cleft upper lip, Anophthalmia |
OMIM:164210 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula |
ORPHA:2736 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death, Macrocephaly, Hydrocephalus |
OMIM:187600 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Neonatal death, Stillbirth, Hypoplasia of the brainstem, Cerebellar hypoplasia |
OMIM:236500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Meckel Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Ap... |
ORPHA:564 |
Charge Syndrome |
|
Cleft palate, Intrauterine growth retardation, Microphthalmia, Short stature, Cleft upper lip, An... |
ORPHA:138 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Downturned corners of mouth, Optic nerve aplasia, Short stature |
ORPHA:264200 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Oligodontia, Long philtrum, Submucous cleft hard palate, Short stature, Anophthal... |
OMIM:300166 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Bresek Syndrome |
|
Neonatal death, Hydrocephalus, Optic nerve hypoplasia, Microcephaly |
ORPHA:85284 |
Microgastria-Limb Reduction Defects Association |
|
Anophthalmia, Microgastria, Aganglionic megacolon, Intestinal malrotation |
OMIM:156810 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Microphthalmia, Short stature, Long philtrum, Cleft upper lip, True an... |
ORPHA:1106 |
Focal Dermal Hypoplasia |
|
Hypodontia, Cleft palate, Microphthalmia, Oligodontia, Short stature, Cleft upper lip, Anophthalm... |
OMIM:305600 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal death, Focal T2 hyperintense basal ganglia lesion, Death in childhood,... |
OMIM:245400 |
Proboscis Lateralis |
|
High palate, Microphthalmia, Agenesis of canine, Long philtrum, Anophthalmia, Optic nerve hypopla... |
ORPHA:141099 |
Fraser Syndrome |
|
High palate, Microphthalmia, Ectopic anus, Cleft upper lip, Anophthalmia, Anal atresia, Bifid ton... |
ORPHA:2052 |
Fraser Syndrome 1 |
|
Cleft palate, Abnormality of the small intestine, Cleft upper lip, Abnormality of the anus, Anoph... |
OMIM:219000 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Long philtrum, Anophthalmia, Severe short stature, Thick vermilion border |
ORPHA:2526 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Growth delay, Anophthalmia, Abnormality of the anus, Abnormal dental enamel morph... |
ORPHA:2556 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Glutamine Deficiency, Congenital |
|
Dilation of lateral ventricles, Neonatal death, Hypoplasia of the corpus callosum |
OMIM:610015 |
Branchiooculofacial Syndrome |
|
Pyloric stenosis, Cleft palate, Intrauterine growth retardation, Microphthalmia, Cleft upper lip,... |
OMIM:113620 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death |
OMIM:619003 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death |
OMIM:224410 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Microphthalmia, Syndromic 1 |
|
Pyloric stenosis, High, narrow palate, High palate, Rectal prolapse, Aganglionic megacolon, Growt... |
OMIM:309800 |
Charge Syndrome |
|
Cleft palate, Microphthalmia, Duodenal atresia, Cleft upper lip, Anophthalmia, Esophageal atresia... |
OMIM:214800 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly |
ORPHA:2211 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Hydrocephalus, Hypoplasia of the corp... |
OMIM:227646 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death |
OMIM:228940 |
Microphthalmia, Syndromic 6 |
|
High palate, Microphthalmia, Cleft palate, Anophthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth |
ORPHA:85212 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Neonatal death, Death in adolescence, Death in childhood, Microcephaly |
OMIM:619055 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Pachygyria, Neonatal death, Macrocephaly |
OMIM:231680 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle, Microcephaly |
OMIM:600901 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death |
OMIM:227270 |
Thanatophoric Dysplasia, Type Ii |
|
Neonatal death |
OMIM:187601 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle, Microcephaly |
OMIM:227650 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Secondary microcephaly, Neonatal death |
OMIM:619167 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Neonatal death |
OMIM:601376 |
Developmental And Epileptic Encephalopathy 89 |
|
Neonatal death, Death in childhood, Macrocephaly, Cerebral atrophy, Hypoplasia of the corpus call... |
OMIM:619124 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle, Microcephaly |
OMIM:227645 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Death in infancy |
OMIM:300219 |
Raine Syndrome |
|
Neonatal death, Hydrocephalus, Microcephaly, Cerebral calcification |
OMIM:259775 |
Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy |
OMIM:618839 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Microcephaly |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Holoprosencephaly, Neonatal death, Macrocephaly, Hydrocephalus |
OMIM:269860 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Pallister-Hall Syndrome |
|
Holoprosencephaly, Hypothalamic hamartoma, Neonatal death, Panhypopituitarism, Decreased response... |
OMIM:146510 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Periventricular heterotopia, Neonatal death, Cerebellar vermis hypoplasia, Hydr... |
OMIM:612289 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy |
OMIM:265120 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death |
OMIM:263200 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death |
OMIM:609638 |
Greenberg Dysplasia |
|
Neonatal death, Macrocephaly, Stillbirth |
OMIM:215140 |
Atelosteogenesis, Type I |
|
Neonatal death, Stillbirth |
OMIM:108720 |
Meacham Syndrome |
|
Neonatal death, Death in infancy, Stillbirth, Death in childhood |
OMIM:608978 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal death, Death in infancy |
OMIM:610921 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death |
OMIM:619362 |
Renal Dysplasia-Limb Defects Syndrome |
|
Neonatal death |
OMIM:266910 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death |
OMIM:617925 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Neonatal death, Anterior pituitary hypoplasia, Hydrocephalus, Dilation of lateral ventricles, Fro... |
OMIM:619534 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death |
OMIM:265380 |
Visceral Steatosis, Congenital |
|
Neonatal death |
OMIM:228100 |