Delayed speech and language development, and Intellectual disability, mild

High match SECKEL SYNDROME 6; SCKL6

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

SOURCES: UMLS DOID OMIM MONDO

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a;mrt2a

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Delayed speech and language development

SOURCES: MESH UMLS OMIM MONDO

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

• Autosomal dominant inheritance
• Intellectual disability
• Global developmental delay
• Hypertelorism
• Ptosis

SOURCES: UMLS MONDO DOID GARD OMIM

High match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

• Intellectual disability
• Seizures
• Pica
• Delayed speech and language development
• Intellectual disability, severe

SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

High match LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

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

SOURCES: UMLS MONDO OMIM

High match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Delayed speech and language development
• Hyperreflexia

SOURCES: MESH MONDO OMIM UMLS

High match MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

FRAXE mental retardation is a form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). FRAXE is associated with a fragile site on chromosome Xq28 and is the cause of nonsyndromic X-linked mental retardation in 1 of 50,000 newborn males. The disorder can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).

MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE Is also known as fraxe mental retardation syndrome;intellectual disability associated with fragile site fraxe

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Epicanthus

SOURCES: MONDO GARD OMIM ORPHANET SCTID

High match MENTAL RETARDATION, X-LINKED 9; MRX9

Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44;mrx44

• Intellectual disability
• Seizures
• Global developmental delay
• Cognitive impairment
• Depressed nasal bridge

SOURCES: MESH UMLS OMIM MONDO

High match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

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

SOURCES: ORPHANET OMIM UMLS MONDO

High match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Ataxia
• Hepatomegaly

SOURCES: DOID MONDO OMIM UMLS