| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Amish lethal microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Secondary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Achalasia microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Stimmler syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| 3-phosphoglycerate dehydrogenase deficiency infantile form |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Autosomal recessive chorioretinopathy and microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Anonychia with microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Aphalangy and syndactyly with microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Autosomal dominant primary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Cleft palate, large ears, small head syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Congenital intrauterine infection-like syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Hennekam Beemer syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Autosomal recessive primary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Deficiency of leukotriene C4 synthase |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Lowry Wood syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Goldberg Shprintzen megacolon syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Filippi syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Hypocalcaemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hypophosphataemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hydromicrocephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| Hall Riggs syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Jawad syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Autosomal dominant sideroblastic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
| Autosomal dominant sideroblastic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Lowry MacLean syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephalic osteodysplastic dysplasia Saul Wilson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephalic osteodysplastic primordial dwarfism types I and III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Haemolytic anaemia due to red cell enolase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Haemolytic anaemia due to red cell enolase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Haemoglobin Paksé disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
| Haemoglobin Paksé disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Haemoglobin Seal Rock disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
| Haemoglobin Seal Rock disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Haemolytic anaemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Haemolytic anaemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephaly cardiomyopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly cleft palate syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephalic primordial dwarfism Toriello type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Microcephaly with cervical spine fusion anomaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Seemanova Lesny syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly with albinism and digital anomaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Microcephaly with brachydactyly and kyphoscoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Microcephaly with cardiac defect and lung malsegmentation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Drug-induced non autoimmune haemolytic anaemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
| Drug-induced non autoimmune haemolytic anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Iron deficiency anaemia due to coeliac disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Acquired iron deficiency anaemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Acquired iron deficiency anaemia due to increased requirement in adolescence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Acquired iron deficiency anaemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Acquired iron deficiency anaemia due to increased requirement in infancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Post gastrectomy iron deficiency anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Post gastrectomy iron deficiency anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalus, brain defect, spasticity, hypernatraemia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Mikati Najjar Sahli syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Say Barber Miller syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly with deafness and intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephalus, lymphoedema, chorioretinopathy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephaly with simplified gyral pattern |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly, seizure, intellectual disability, heart disease syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| MMEP syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly-capillary malformation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly, thin corpus callosum, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Felty's syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Neu-Laxova syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Nijmegen breakage syndrome-like disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly, polymicrogyria, corpus callosum agenesis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Oculocerebrofacial syndrome Kaufman type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Oro-facial digital syndrome type 14 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Oculo-palato-cerebral syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| MacDermot Winter syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Radioulnar synostosis with microcephaly and scoliosis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Pseudoprogeria syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Severe neonatal onset encephalopathy with microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Severe X-linked intellectual disability Gustavson type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Child HC < 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Child HC = 0.4th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Child HC 0.5th - 1.9th centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Child head circumference = 2nd centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |