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65094009: Multiple malformation syndrome with facial defects as major feature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4603111000241111 syndrome d'anomalies congénitales multiples avec anomalies faciales comme caractéristiques principales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

565 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with facial defects as major feature Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with facial defects as major feature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
2p13.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
11p15.4 microduplication syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Familial omphalocele syndrome with facial dysmorphism (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Pilotto syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Edinburgh malformation syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, short stature, hypertelorism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Autism spectrum disorder due to AUTS2 deficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
15q overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Thakker Donnai syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Roifman syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
9q31.1q31.3 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
14q24.1q24.3 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Flat face, microstomia, ear anomaly syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Temple syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Lethal polymalformative syndrome Boissel type Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Thin ribs, tubular bones, dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
RIDDLE syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, autism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ankyloblepharon filiforme adnatum with cleft palate syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability due to GRIA3 mutations Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Needles syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm osteoarthritis syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
21q22.11q22.12 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Leprechaunism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Ascher's syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Desbuquois syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Winchester syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Neu-Laxova syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Marshall-Smith syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Myhre syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Barber-Say syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly capillary malformation Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
14q32 deletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
16p11.2p12.2 microdeletion syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Four X syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a False Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability hypotonic face syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
2p15p16.1 microdeletion syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
N syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Multiple malformation syndrome with facial defects as major feature Inferred relationship Existential restriction modifier (core metadata concept)

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