Disease #00299 (PHS (Pallister-Hall syndrome (PHS)), OMIM:146510)

Official abbreviation PHS
Name Pallister-Hall syndrome (PHS)
OMIM ID 146510
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 25
Phenotype entries for this disease 22
Associated with 1 gene GLI3
Associated tissues -
Disease features -
Remarks -


Individuals

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00004270 - PubMed: Putoux 2011 - ? ? - - - - - - PHS - KIF7 KIF7 1 1 Tania Attie-Bitach
00016382 P15112 PubMed: Demurger 2015 - M no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016383 G097 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016384 G085 PubMed: Demurger 2015 family, 4 affected F ? Lebanon - - 0 - - PHS 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 GLI3 GLI3 1 4 Tania Attie-Bitach
00016385 G121 PubMed: Demurger 2015 - F no (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016386 G001 PubMed: Demurger 2015 - M no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016387 G083 PubMed: Demurger 2015 family, 2 affected F - (France) - - 0 - - PHS 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 GLI3 GLI3 1 2 Tania Attie-Bitach
00016388 G082 PubMed: Demurger 2015 - M - (Lebanon) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016390 G044 PubMed: Demurger 2015 - M no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016391 G072 PubMed: Demurger 2015 - M no France - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016392 GBUL PubMed: Demurger 2015 - M ? (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016393 G040 PubMed: Demurger 2015 - F - France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016394 G012 PubMed: Demurger 2015 - F no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016395 G024 PubMed: Demurger 2015 - - no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016396 G013 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016397 G080 PubMed: Demurger 2015 - M no France white - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016398 G104 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00016399 G081 PubMed: Demurger 2015 - M no (France) - - 0 - - PHS 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 GLI3 GLI3 1 1 Tania Attie-Bitach
00275692 - - - - - - - - 0 - - PHS - GLI3 GLI3 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00374165 G085 father PubMed: Demurger 2015 father - - - - - 0 - - PHS 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 GLI3 GLI3 1 1 Johan den Dunnen
00374166 G085 aunt PubMed: Demurger 2015 aunt - - - - - 0 - - PHS insertional/postaxial polydactyly; brachytelephalangism/dactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia GLI3 GLI3 1 1 Johan den Dunnen
00374167 G085 grand-mother PubMed: Demurger 2015 grand-mother - - - - - 0 - - PHS insertional/postaxial polydactyly; no craniofacial anomalies; no anal atresia; no cardiac anomalies; no genital anomalies; no intellectual disability; nail dysplasia GLI3 GLI3 1 1 Johan den Dunnen
00374168 G083 father PubMed: Demurger 2015 father - - - - - 0 - - PHS 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 GLI3 GLI3 1 1 Johan den Dunnen
00377158 II-1 - son M - - - - 0 - - PHS - - SMO 2 1 Michael Hildebrand
00377159 II-2 - daughter F - - - - 0 - - PHS - - SMO 2 1 Michael Hildebrand
Legend   How to query