1 | 12 | M | ALDOB (NM_000035.4) c.448G > C, p.A150P | Class 5 | Hom | AR | Maternal Paternal | Hepatomegaly (HP:0002240), recurrent hypoglycemia (HP: 0001988) | Hereditary fructose intolerance (#229600) | L, S |
2 | 25 | F | PPP2R5D (NM_006245.4) c.592G > A, p.E198K | Class 5 | Het | AD | De novo | Global developmental delay (HP: 0001263), Intellectual disability (HP:0001249), delay speech and language development (HP:0000750), macrocephaly (HP:0000256), central hypotonia (HP:0011398), low-set ears (HP:0000369), frontal bossing (HP: 0002007), strabismus (HP: 0000486), dysmorphic facial features (HP:0001999), seizures (HP: 0001250) | Houge-Janssens syndrome 1 (#616355) | R, [28]] |
3 | 3 months*** | M | PMM2 (NM_000303.3) c.691G > A, p.V231M c.447 + 3dup | Class 5 Class 4 | Comp. het. | AR | Paternal Maternal | Global developmental delay (HP: 0001263), strabismus (HP:0000486), dysmorphic facial features (HP:0001999), inverted nipples (HP: 0003186), coagulopathy (HP:0003256), elevated hepatic transaminases (HP:0002910), failure to thrive (HP:0001508), pericardial effusion (HP:0001698), abnormal fat distribution | Congenital disorder of glycosylation, type Ia (#212065) | none, [26] |
4 | 13 | F | EXT1 (NM_000127.3) c.1056 + 1_1056 + 2dup | Class 4 | Het | AD | De novo | Multiple exostoses (HP:0002762), short stature (HP:0004322), diabetes mellitus type I (HP:0100651) | Exostoses, multiple, type 1 (#133700) | none |
5 | 14 days | F | KCNQ2 (NM_172107.4) c.1678C > T, p.R560W | Class 5 | Het | AD | De novo | Focal clonic seizures (HP:0002266), central hypotonia (HP:0011398), foot polydactyly (HP:0001829), hyporeflexia (HP:0001265) | Developmental and epileptic encephalopathy 7 (#613720) | R, M |
6 | 2*** | F | MPZ (NM_000530.8) c.640del, p.R214fs | Class 4 | Het | AD | De novo | Central hypotonia (HP:0011398), hyporeflexia (HP:0001265), fatigable weakness of skeletal muscles (HP:0030196), inverted nipples (HP: 0003186), abnormality of cerebellum (HP:0001317) | Hypomyelinating neuropathy, congenital, 2 (#618184) | none |
7 | 10 days | F | MYRF (NM_001127392.3) c.1388 + 2T > G | Class 4 | Het | AD | De novo, germinal mozaicism? | Dyspnea (HP:0002094), hyposaturation, pulmonary hypoplasia (HP:0002089), abnormal bronchial branching (HP:0002109), partial anomalous pulmonary venous return (HP:0010773), pulmonary hypertension (HP:0002092), patent ductus arteriosus (HP:0001643) | Cardiac-urogenital syndrome (#618280) | Post-mortem [27] |
8 | 5 months | F | MYRF (NM_001127392.3) c.1388 + 2T > G | Class 4 | Het | AD | De novo, germinal mozaicism? | Dyspnea (HP:0002094), hyposaturation, pulmonary hypoplasia (HP:0002089), abnormal bronchial branching (HP:0002109), partial anomalous pulmonary venous return (HP:0010773), pulmonary hypertension (HP:0002092), coarctation of aorta (HP:0001680), hypoplastic aortic arch (HP:0012304), patent ductus arteriosus (HP:0001643) | Cardiac-urogenital syndrome (#618280) | Post-mortem [27] |
9 | 3 | F | DYRK1A (NM_001347721.2) c.586C > T, p.R196* | Class 5 | Het | AD | De novo | Global developmental delay (HP:0001263), intellectual disability (HP:0001249), feeding difficulties (HP:0011968), failure to thrive (HP:0001508), microcephaly (HP:0000252), lower limb spasticity (HP:0002061), dysmorphic facial features (HP:0001999) | Intellectual developmental disorder, autosomal dominant 7 (#614104) | R, S |
10 | 12 | M | PHKA2 (NM_000292.3) c.270C > T, p.R824C | Class 4 | Hemizyg. | XLR | Maternal | Hepatomegaly (HP:0002240), recurrent mild hypoglycemia (HP: 0001988), elevated hepatic transaminases (HP:0002910), failure to thrive (HP:0001508), hyperlipidemia (HP:0003077) | Glycogen storage disease, type Ixa (#306000) | L, S |
11 | 17 | F | ABCC8 (NM_000352.6) c.4104C > G, p.I1368M c.4008G > C, p.K1336N | Class 4 Class 3 | Comp. het. | AR | Paternal Maternal | Hypoglycemia (HP:0001943), seizures (HP:0001250) | Hyperinsulinemic hypoglycemia, familial, 1 (#256450) | R, M, S |
12 | 6 | F | SGSH (NM_000199.5) c.1167C > A, p.N389K c.1483T > C, p.C495R | Class 5 Class 4 | Comp. het. | AR | Paternal Maternal | Global developmental delay (HP: 0001263), Intellectual disability (HP:0001249), delay speech and language development (HP:0000750), abnormal emotion/affect behaviour (HP: 0100851), dysmorphic facial features (HP:0001999), coarse facial features (HP:0000280), abnormality of hair texture (HP:010719), short stature (HP:0004322) | Mucopolysaccharidosis type IIIA (Sanfilippo A) (#252900) | R |
13 | 5 | F | FBXO11 (NM_001190274.2) c.1810C > T, p.Q604* | Class 4 | Het | AD | De novo | Microcephaly (HP:0000252), myopathy (HP:0003198), global developmental delay (HP:0001263), joint hypermobility (HP:0001382), intellectual disability (HP:0001249), dysmorphic facial features (HP:0001999) | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (#607871) | none |
14 | 14 | M | MEGF10 (NM_001256545.2) c.1562G > C, p.R521P | Class 3 | Hom | AR | Maternal Paternal | Failure to thrive (HP:0001508), fatigable weakness of skeletal muscles (HP:0030196), myopathy (HP:0003198), scoliosis (HP:0002650), high palate (HP:0000218), areflexia (HP:0001284), hypoventilation (HP: 0002791), hypercapnia (HP:0002791) | Congenital myopathy 10B, mild variant (#620249) | R, Su, P, I, M |
15 | 4 | M | PYGL (NM_002863.4) c.2017G > A, p.E673K | Class 4 | Hom | AR | Maternal Paternal | Hepatomegaly (HP:0002240), elevated hepatic transaminases (HP:0002910), failure to thrive (HP:0001508), hyperlipidemia (HP:0003077), Postnatal growth retardation (HP:0008897), short stature (HP:0004322) | Glycogen storage disease VI (#613741) | L, S, R |
16 | 1 | F | TRIO (NM_007118.4) c.2388del, p.(I796Mfs) | Class 4 | Het | AD | Maternal | Microcephaly (HP:0000252), global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), brachycephaly (HP:0000248), premature closure of fontanelles (HP: 0005458), epicantus (HP:0000286), frontal bossing (HP: 0002007), wide nose (HP:0000445) | Intellectual developmental disorder, autosomal dominant 44, with microcephaly (#618825) | none |
17 | 3 | M | NSD1 (NM_022455.5) c.5127G > A, p.W1709* | Class 5 | Het | AD | De novo | Macrocephaly (HP:0000256), tall stature (HP:0000098), neuroblastoma (HP:0003006), dysmorphic facial features (HP:0001999), deeply set eye (HP:0000490), low-set ears (HP:0000369), frontal bossing (HP: 0002007), elevated hepatic transaminases (HP:0002910), intellectual disability (HP:0001249) | Sotos syndrome (#117550) | S |
18 | 1 month | M | RARS2 (NM_020320.5) c.1679G > A, p.R560H c.1157G > A, p.R386Q | Class 4 Class 3 | Comp. het. | AR | Paternal Maternal | Microcephaly (HP:0000252), global developmental delay (HP:0001263), seizures (HP:0001250), central hypotonia (HP:0011398), feeding difficulties (HP:0011968), high lactate level, dysmorphic facial features (HP:0001999) | Pontocerebellar hypoplasia, type 6 (#611523) | S, M, I |
19 | 1 | F | GBE1 (NM_000158.4) c.691 + 2T > C c.113T > G, p.L38W | Class 5 Class 3 | Comp. het. | AR | Paternal Maternal | Hepatomegaly (HP:0002240), elevated hepatic transaminases (HP:0002910), failure to thrive (HP:0001508), central hypotonia (HP:0011398), global developmental delay (HP: 0001263), short stature (HP:0004322) | Glycogen storage disease IV (#232500) | R, L, S |
20 | 1 month | F | GRIN2B (NM_000834.5) c.2065G > A, p.G689S | Class 5 | Het | AD | De novo | Dysmorphic facial features (HP:0001999), global developmental delay (HP: 0001263), central hypotonia (HP:0011398), short stature (HP:0004322), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), strabismus (HP:0000486) | Intellectual developmental disorder, autosomal dominant 6, with or without seizures (#613970) | R, S |
21 | 9 | F | GNAO1 (NM_020988.3) c.625C > T, p.R209C | Class 5 | Het | AD | De novo | Seizures (HP:0001250), global developmental delay (HP: 0001263), intellectual disability (HP:0001249), central hypotonia (HP:0011398), failure to thrive (HP:0001508), dystonia (HP:0001332), dyskinesias (HP: 0100660), spastic tetraparesis (HP:0001285) | Neurodevelop - mental disorder with involuntary movements (#617493) | P, S |
22 | 3 weeks | M | G6PC1 (NM_000151.4) c.247C > T, p.R83C | Class 5 | Hom | AR | Paternal Maternal | Fasting hypoglycemia (HP:0003162), hepatomegaly (HP:0002240), elevated hepatic transaminases (HP:0002910), lactic acidosis (HP:0003128) | Glycogen storage disease Ia (#232200) | R, S, L, P |
23 | 6 weeks | F | KMT2D (NM_003482.4) c.5124_5125del, p.R1709fs | Class 5 | Het | AD | De novo | Seizures (HP:0001250), hypoglycemia (HP: 0001943), Mondini malformation HP:0000376, dysmorphic facial features (HP:0001999), wide nose (HP:0000445), hypertelorism (HP:0000316), long palpebral fissures (HP:0000637), blue sclerae (HP:0000592), iris coloboma (HP:0000612), suspect visual impairment (HP:0000505) | Kabuki syndrome 1 (#147920) | R, S |
24 | 14 | M | NFIB (NM_001190737.2) c.701del, p.G234fs | Class 4 | Het | AD | Unknown | Global developmental delay (HP: 0001263), Intellectual disability (HP:0001249), delayed speech and language development (HP:0000750), macrocephaly (HP:0000256), strabismus (HP: 0000486), abnormal emotion/affect behaviour (HP: 0100851), dysmorphic facial features (HP:0001999), coarse facial features (HP:0000280), thick eyebrown (HP:0000574), short stature (HP:0004322) | Macrocephaly, acquired, with impaired intellectual development (#618286) | none |
25 | 8 | M | NPHP1 deletion exon 1–20 | Pathogenic | Hom | AR | Unknown | Amblyopia (HP:0000646), astigmatism (HP: 0000529), visual impairment (HP:0000505), renal insuficiency (HP:0000083) | Senior-Loken syndrome-1 (#266900) | P, R, S |