Delayed speech and language development, and Telecanthus

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 Is also known as ;epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Visual impairment
• Wide nasal bridge

SOURCES: OMIM ORPHANET UMLS MONDO

High match CRANIOSYNOSTOSIS 4; CRS4

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

• Autosomal dominant inheritance
• Hypertelorism
• Ptosis
• Depressed nasal bridge
• Delayed speech and language development

SOURCES: MONDO UMLS OMIM

High match OROFACIODIGITAL SYNDROME XIV; OFD14

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.

OROFACIODIGITAL SYNDROME XIV; OFD14 Is also known as ;microcephaly-cerebral malformation-orofaciodigital syndrome; ofd14; oral-facial-digital syndrome type 14

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Cleft palate
• Abnormal facial shape

SOURCES: ORPHANET MONDO UMLS OMIM

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Is also known as ;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: ORPHANET DOID OMIM MONDO UMLS

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: UMLS MONDO OMIM MESH

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: MESH MONDO OMIM DOID UMLS

High match 1Q44 MICRODELETION SYNDROME

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44); monosomy 1q44

• Global developmental delay
• Short stature
• Microcephaly
• Scoliosis
• Hypertelorism

SOURCES: ORPHANET

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Pica
• Micrognathia

SOURCES: GARD OMIM UMLS MESH MONDO

High match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009). Genetic Heterogeneity the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeSee also MPPH2 (OMIM ), caused by mutation in the AKT3 gene (OMIM ) on chromosome 1q43-q44; and MPPH3 (OMIM ), caused by mutation in the CCND2 gene (OMIM ) on chromosome 12p13.

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 Is also known as megalencephaly, polymicrogyria, mega corpus callosum syndrome;mpph, meg-pmg-megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development;mpph syndrome

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: ORPHANET OMIM MONDO UMLS MESH

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as noonan-neurofibromatosis syndrome, neurofibromatosis with noonan phenotype

• Autosomal dominant inheritance
• Global developmental delay
• Short stature
• Pica
• Scoliosis

SOURCES: OMIM ORPHANET