| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
| Hemoglobin Seal Rock disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
| Hemoglobin Seal Rock disease (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. |
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 |
| Iron deficiency anemia due to increased requirement in adolescence (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Iron deficiency anemia due to increased requirement in adolescence (disorder) |
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 |
| Iron deficiency anemia following gastrectomy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Iron deficiency anemia following gastrectomy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. |
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 is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Microcephaly-capillary malformation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. |
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 (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
| A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
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 HC = 2nd centile |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
| A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Seckel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
| Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Fecal lipase below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Feces pH more acidic than reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Anemia caused by antineoplastic agent |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Pancytopenia caused by anticonvulsant |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
| Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Pancytopenia caused by antithyroid drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
| Anemia due to enzymopathy (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
| Anemia due to enzymopathy (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
| Homozygous hereditary elliptocytosis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Homozygous hereditary elliptocytosis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
| Hereditary iron deficiency anemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
| Vitamin B12 deficiency anemia due to chronic atrophic gastritis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
| Vitamin B12 deficiency anemia due to chronic atrophic gastritis (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
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