Phenotypes for disease #00299 (PHS (Pallister-Hall syndrome (PHS)), OMIM:146510)

22 entries on 1 page. Showing entries 1 - 22.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000002987 - - - Unknown - - - - - Tania Attie-Bitach 00004270
0000014982 no growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; no intellectual disability; nail dysplasia; overlapping toes, preauricular tag Pallister–Hall syndrome PHS Isolated (sporadic) 00y04m - - - - Tania Attie-Bitach 00016382
0000014983 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; genital anomalies; no lung dysplasia; no intellectual disability; micropenis, thin corpus callosum Pallister–Hall syndrome PHS Isolated (sporadic) 00y14m - - - - Tania Attie-Bitach 00016383
0000014984 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia Pallister–Hall syndrome PHS Familial, autosomal dominant 01y - - - - Tania Attie-Bitach 00016384
0000014985 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia Pallister–Hall syndrome PHS Unknown 05y - - - - Tania Attie-Bitach 00016385
0000014986 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; no intellectual disability; sacrococcygeal teratoma, conical teeth, cryptorchidism, micropenis, syndactyly, unilateral renal agenesis, fine motor delay Pallister–Hall syndrome PHS Isolated (sporadic) 04y10m - - - - Tania Attie-Bitach 00016386
0000014987 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia Pallister–Hall syndrome PHS Familial, autosomal dominant 12y - - - - Tania Attie-Bitach 00016387
0000014988 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; anal atresia; cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; no nail dysplasia; micropenis, choanal atresia, interventricular communication, fine DD Pallister–Hall syndrome PHS Isolated (sporadic) 05y09m - - - - Tania Attie-Bitach 00016388
0000014991 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; no bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; scoliosis, dental malposition Pallister–Hall syndrome PHS Familial, autosomal dominant 35y - - - - Tania Attie-Bitach 00016390
0000014992 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; hypothalamic hamartoma; no craniofacial anomalies; no anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; no genital anomalies; no lung dysplasia; oligohydramnios, syndactyly Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016391
0000014993 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; no cardiac anomalies; renal anomalies; genital anomalies; intellectual disability; nail dysplasia; seizures, panhypopituitarism, developmental sexual disorder (karyotype 46xy, testis with an undeveloped genital tubercle), renal hypoplasia Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016392
0000014994 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; nail dysplasia; syndactyly Pallister–Hall syndrome PHS Isolated (sporadic) 02y03m - - - - Tania Attie-Bitach 00016393
0000014995 growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; no lung dysplasia; agnathia, hypoplastic maxillary, absence of oral orifice, bilateral choanal atresia, oligosyndactyly, arthrogryposis, mesomelia bilateral radio-ulnar bowing, absence of tibia and fibula, bilateral renal agenesis, pituitary gland agenesis, adrenal agenesis, uterovaginal aplasia, atrioventricular communication, corpus callosum agenesis, microcephaly Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016394
0000014996 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; no cardiac anomalies; renal anomalies; no genital anomalies; lung dysplasia; posterior cleft palate, micrognathia, micromelia, oligosyndactyly, club feet, adrenal gland hypoplasia, bilateral renal agenesis, anteposed anus Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016395
0000014997 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; nail dysplasia; bilateral choanal atresia, retrognathia, posterior cleft palate, ear dysplasia, cervical chondroma, syndactyly, adrenal and pituitary gland agenesis, micropenis, unilateral renal agenesis, abnormal aortic arch Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016396
0000014998 growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; no brachytelephalangism/dactyly ; Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; craniofacial anomalies; anal atresia; bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; premaxillary agenesis, microretrognathism, arhinencephaly, hygroma colli, intestinal malrotation, micropenis, bilateral renal agenesis, iac, ivc, adrenal gland agenesis Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016397
0000014999 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; brachytelephalangism/dactyly; Y-shaped metacarpal/metatarsal; craniofacial anomalies; anal atresia; no bifid epiglottis; cardiac anomalies; renal anomalies; genital anomalies; lung dysplasia; hypertelorism, retrognatism, cleft palate, oligosyndactyly, abnormal metacarpals, unilateral renal agenesis, micropenis, interauricular communication Pallister–Hall syndrome PHS Isolated (sporadic) - - - - - Tania Attie-Bitach 00016398
0000015000 growth delay/growth hormone deficiency; no insertional/postaxial polydactyly; brachytelephalangism/dactyly; no Y-shaped metacarpal/metatarsal; hypothalamic hamartoma; no craniofacial anomalies; anal atresia; bifid epiglottis; no cardiac anomalies; no renal anomalies; genital anomalies; intellectual disability; nail dysplasia; limited ankle mobility, syndactyly, hypopituitarism, micropenis, hypospadias, speech delay, gelastic seizures Pallister–Hall syndrome PHS Isolated (sporadic) 00y11m - - - - Tania Attie-Bitach 00016399
0000269375 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; genital anomalies; no intellectual disability; micropenis Pallister–Hall syndrome PHS Familial, autosomal dominant - - - - - Johan den Dunnen 00374165
0000269376 insertional/postaxial polydactyly; brachytelephalangism/dactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia Pallister–Hall syndrome PHS Familial, autosomal dominant - - - - - Johan den Dunnen 00374166
0000269377 insertional/postaxial polydactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia Pallister–Hall syndrome PHS Unknown - - - - - Johan den Dunnen 00374167
0000269378 growth delay/growth hormone deficiency; insertional/postaxial polydactyly; Y-shaped metacarpal/metatarsal; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no renal anomalies; no genital anomalies; no intellectual disability; no nail dysplasia Pallister–Hall syndrome PHS Familial, autosomal dominant - - - - - Johan den Dunnen 00374168
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