Delayed speech and language development, and Dental crowding

High match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment

SOURCES: MONDO OMIM UMLS

High match MENTAL RETARDATION, X-LINKED 19; MRX19

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Pica
• Scoliosis

SOURCES: UMLS MONDO MESH OMIM

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Hypertelorism
• Motor delay

SOURCES: GARD MONDO OMIM UMLS DOID

High match CK SYNDROME

CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.

CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: OMIM UMLS ORPHANET MONDO

High match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

• Intellectual disability
• Seizures
• Scoliosis
• Strabismus
• Motor delay

SOURCES: ORPHANET

High match ALAZAMI-YUAN SYNDROME; ALYUS

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS OMIM MONDO

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

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

SOURCES: MONDO UMLS OMIM

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly

SOURCES: ORPHANET OMIM DOID UMLS MONDO

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

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20

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

SOURCES: MONDO ORPHANET OMIM UMLS DOID