Table 1 Characteristics of the test patients selected from the literature

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]