| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Microstomia (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Neu-Laxova syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Seckel syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Diastrophic dysplasia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital microhepatia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital small anus |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenitally small punctum lacrimale (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microphakia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcolon |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Dysplasia of eye |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Congenital microcheilia (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Simple microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Megacystis, microcolon, hypoperistalsis syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microgyria |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Micromelia (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hydromicrocephaly (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Barber-Say syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Lenz microphthalmia syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital bilateral perisylvian syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microspherophakia (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcornea of bilateral eyes (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Bilateral microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bilateral microphthalmos |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| SOX2 anophthalmia syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Uterus parvicollis |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Amish lethal microcephaly (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephaly-capillary malformation syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephalic primordial dwarfism Alazami type |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalic primordial dwarfism Dauber type |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cleft palate, large ears, small head syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus, complex motor and sensory axonal neuropathy syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oro-facial digital syndrome type 14 (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Bilateral polymicrogyria (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephalic primordial dwarfism Montreal type |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Nijmegen breakage syndrome-like disorder |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Jawad syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Macrosomia, microphthalmia, cleft palate syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of 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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Flat face, microstomia, ear anomaly syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcornea, myopic chorioretinal atrophy, telecanthus syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital miosis (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Microtia |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Goldberg Shprintzen megacolon syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Bilateral microtia with deafness and cleft palate syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Achalasia microcephaly syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Radioulnar synostosis with microcephaly and scoliosis syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus with brachydactyly and kyphoscoliosis syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalus cleft palate syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised 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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microphthalmia with brain atrophy syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Filippi syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hall Riggs syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Lowry MacLean syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Isotretinoin embryopathy-like syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oculocerebrofacial syndrome Kaufman type |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Severe X-linked intellectual disability Gustavson type (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Cataract and microcornea syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Juvenile cataract, microcornea, renal glucosuria syndrome |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Thickened earlobe with conductive deafness syndrome (disorder) |
Associated morphology |
True |
Abnormal smallness (morphologic abnormality) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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