Patient identification | Phenotype search traits (Patient reference) | Gene | Mutation | Correct diagnosis (OMIM) |
---|---|---|---|---|
1a | Holoprosencephaly | SIX3 | c.977G > C p. Arg257Pro | Holoprosencephaly-2 (157170) |
Microphthalmos | ||||
Iris coloboma | ||||
(Wallis et al.) [21] | ||||
2a | Preaxial polydactyly | NEK1 | c.379C > T p.Arg127Ter | Short rib-polydactyly syndrome, type II (263520) |
Median cleft lip and palate | ||||
Short ribs | ||||
(Thiel et al.) [22] | ||||
3a | Cutaneous finger syndactyly | SLC26A2 | c.1984 T > A p.Cys653Ser | Epiphyseal dysplasia, multiple, 4 (226900) |
Patellar dislocation | ||||
Scoliosis | ||||
(Makitie et al.) [23] | ||||
4a | Polymicrogyria | GPR56 | c.1036 T > A p. Cys346Ser | Polymicrogyria, bilateral frontoparietal (606854) |
Seizures | ||||
Microcephaly | ||||
(Piao et al.) [24] | ||||
5a | Synophrys | RAD21 | c.1127C > G p.Pro376Arg | Cornelia de Lange syndrome 4 (614701) |
Microcephaly | ||||
Tetralogy of Fallot | ||||
(Deardorff et al.) [25] | ||||
6a | Micromelia | COL2A1 | c.4172A > G p.Tyr1391Cys | Platyspondylic lethal skeletal dysplasia, Torrance type (151210) |
Radial bowing | ||||
Pulmonary hypoplasia | ||||
(Nishimura et al.) [26] | ||||
7a | Generalized myoclonic seizures | EHMT1 | c.3409C > T p. Arg1137Ter | Kleefstra syndrome/Chromosome 9q34.3 deletion syndrome (610253) |
Global developmental delay | ||||
Short stature | ||||
(Kleefstra et al.) [27] | ||||
8a | Anophthalmia | STRA6 | c.878C > T p.Pro293Leu | Microphthalmia, syndromic 9 (601186) |
Pulmonic stenosis | ||||
Blepharophimosis | ||||
(Pasutto et al.) [28] | ||||
9a | Oligohydramnios | RBM10 | c.1235G > A p. Trp412Ter | TARP syndrome (311900) |
Cleft palate | ||||
Defect in the atrial septum | ||||
(Johnston et al.) [29] | ||||
10a | Hyperventilation | TCF4 | c.1727G > A p.Arg576Gln | Pitt-Hopkins syndrome (610954) |
Postnatal microcephaly | ||||
Seizures | ||||
(Amiel et al.) [30] | ||||
1b | Limb shortening | WNT7A | c.1179C > T p.Arg292Cys | Ulna and fibula absence of with severe limb deficiency (276820 ) |
Aplasia/hypoplasia of the fibula | ||||
Aplasia/hypoplasia of the ulna | ||||
(Woods et al.) [31] | ||||
2b | Synostosis of carpals/tarsals | NOG | c.104C > G p.Pro35Arg | Tarsal-carpal coalition syndrome (186570) |
Proximal symphalangism | ||||
Radial head subluxation | ||||
(Dixon et al.) [32] | ||||
3b | Adrenal hypoplasia | WNT4 | c.341C > T p.Ala114Val | Serkal syndrome or sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs (611812) |
Intrauterine growth retardation | ||||
Renal agenesis | ||||
(Mandel et al.) [33] | ||||
4b | Anal atresia | GLI3 | c.2188_2207del | Pallister-Hall syndrome (146510) |
Central polydactyly (hands) | ||||
Short thumb | ||||
(Killoran et al.) [34] | ||||
5b | Global developmental delay | SC5DL | c.86G > A p.Arg29Gln | Lathosterolosis (607330) |
Postaxial polydactyly of foot | ||||
Toe syndactyly | ||||
(Brunetti-Pierri et al.) [35] | ||||
6b | Central polydactyly (feet) | RAB23 | c.434 T > A p.Leu145Ter | Carpenter syndrome (201000) |
Craniosynostosis | ||||
Finger syndactyly | ||||
(Jenkins et al.) [36] | ||||
7b | Cleft palate | DHCR24 | c.571G > A p.Glu191Lys | Desmosterolosis (602398) |
Short stature | ||||
Aplasia cutis congenita | ||||
(Waterham et al.) [37] | ||||
8b | Generalized hypotonia | NSD1 | c.1310C > G p.Ser437Ter | Sotos syndrome (117550) |
Macrocephaly | ||||
Overgrowth | ||||
(Kurotaki et al.) [38] | ||||
9b | Holoprosencephaly | DHCR7 | c.832-1G > C | Smith-Lemli-Opitz syndrome (270400) |
Median cleft lip and palate | ||||
Microcephaly | ||||
(Wright et al.) [39] | ||||
10b | Short stature | IHH | c.137C > T p.Pro46Leu | Acrocapitofemoral dysplasia (607778) |
Limb shortening | ||||
Cone-shaped epiphysis | ||||
(Hellemans et al.) [40] |