Phenotypes for disease #05281

11 entries on 1 page. Showing entries 1 - 11.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000139680 Global developmental delay Generalized hypotonia Macrocephaly Abnormal facial shape - - Isolated (sporadic) 09y - - - Kohei Hamanaka 00174829
0000139681 Global developmental delay Prominent metopic ridge - - Isolated (sporadic) 05y - - - Kohei Hamanaka 00174828
0000139682 Global developmental delay Generalized hypotonia Seizures Brachycephaly Macrocephaly Prominent metopic ridge Abnormal facial shape - - Isolated (sporadic) 03y - - - Kohei Hamanaka 00174827
0000139683 intellectual disability, facial dysmorphism, narrow nose, downturned mouth, large ears, brachycephaly, microcephaly, myopia, strabismus, heart defect, hypotonia, small hands and feet, digitalized thumbs, retinal dystrophy; no multiple exostoses, no parietal foramina, no tapering fingers - - Isolated (sporadic) 05y - - - Johan den Dunnen 00174858
0000139684 intellectual disability, facial dysmorphism, narrow nose, downturned mouth, brachycephaly, microcephaly, myopia, hypotonia; no large ears, no strabismus,no heart defect, no small hands and feet, no multiple exostoses, no parietal foramina, no tapering fingers, no digitalized thumbs, no retinal dystrophy - - Isolated (sporadic) 42y - - - Johan den Dunnen 00174859
0000139686 intellectual disability, facial dysmorphism, narrow nose, mild craniofacial asymmetry and thin corpus callosum, hypoplasia of inferior cerebellar vermis, nystagmus, hypotonia, iris hypoplasia, superior atypical coloboma, foveal hypoplasia; no large ears, no multiple exostoses, no parietal foramina Gillespie syndrome - Isolated (sporadic) 00y08m - - - Johan den Dunnen 00174861
0000139687 3y-intellectual disability, strikingly unusual dysmorphology syndrome including epicanthus, hypertelorism, oblique palpebral fissures, trigonocephaly, micrognathia; 5y-vocabulary progressing well, good memory, quantitative intelligence 3yr-old girl, inability to concentrate, feed herself when wished; 3y6m-gained control sphincters both day/night; shy, easily frightened, was clumsy with both hands and legs - - Isolated (sporadic) 03y06m - - - Johan den Dunnen 00174862
0000139688 6m-static encephalopathy, developmental delay; microcephaly, short stature, small phallus, unilateral absent testis, dysmorphic features including short forehead, prominent biparietal foramina, midline parietal cortical defect, flat midface, flat occiput, sensorineural hearing loss, epicanthal folds, protuberant ears, bulbous nasal tip continued below columella, depressed nasal root, small mouth and small chin (micrognathia), hypotonia, slight pectus excavatum, recurrent otitis media, slender fingers - - Isolated (sporadic) 02y03m - - - Johan den Dunnen 00174863
0000139689 PSS, intellectual disability,craniofacial anomalies pss - Unknown - - - - Johan den Dunnen 00174864
0000139690 PSS, intellectual disability, craniofacial anomalies pss - Isolated (sporadic) - - - - Johan den Dunnen 00174865
0000139691 PSS, intellectual disability, craniofacial anomalies; 31y-microcephaly, brachycephaly, broad forehead, long narrow nose, hypoplastic mandible, very thin lips, hypotelorism, dysplastic low set ears, no speech PSS - Unknown 31y - - - Johan den Dunnen 00174866
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