| - GRCh37:
- Chr1:12019879-12028775
| PLOD1 | | Hypoplasia of scrotum, Bilateral cryptorchidism, Short chin,
Feeding difficulties, Joint hypermobility, Generalized neonatal hypotonia
| Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:12025628
- GRCh38:
- Chr1:11965571
| PLOD1 | W521*, W568* | Narrow chest, Neonatal hypotonia, Umbilical hernia,
Severe global developmental delay, Hydrocephalus, Dolichocephaly,
Macrocephaly at birth, Porencephalic cyst, Generalized neonatal hypotonia,
Bilateral cryptorchidism, Joint hypermobilityShort chin,
Hypoplasia of scrotum, Feeding difficulties, Generalized hypotonia,
Joint hypermobility, Depressed nasal bridge, High palate,
Thoracolumbar scoliosis, Congenital omphalocele, ...see more | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| | | | Athetosis, Triangular face, Delayed speech and language development,
Depressed nasal bridge, Frontal bossing, Low-set ears,
Motor delay, Short chin, Hypertelorism,
Uncontrolled eye movements, Prominent foreheadGlobal developmental delay,
Hypotonia, Impaired social interactions, Reduced eye contact,
...see more | Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Short chin, Aplasia of the nose, Midface retrusion
| Uncertain significance
(Aug 20, 2016) | criteria provided, single submitter |
| | | | Hypotonia, Tachypnea, Talipes,
Muscular dystrophy, Congenital diaphragmatic hernia, Constipation,
Sparse and thin eyebrow, Protruding ear, Specific learning disability,
Hip dislocation, Abnormal facial shapeAnteverted nares,
Downslanted palpebral fissures, Eczema, High palate,
Short chin, Feeding difficulties, Seizure,
Abnormality of mouth shape, ...see more | Pathogenic
(Aug 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:33133517
- GRCh38:
- Chr6:33165740
| COL11A2 | R1520H, R1413H, R1434H | not provided, not specified | Uncertain significance
(Oct 10, 2021) | criteria provided, multiple submitters, no conflicts |