Delayed speech and language development, and Hypoplasia of penis

Medium match MENTAL RETARDATION, X-LINKED 103; MRX103

• Intellectual disability
• Seizures
• Global developmental delay
• Cryptorchidism
• Anteverted nares

SOURCES: OMIM UMLS MONDO

Medium match MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Abnormal facial shape
• Cataract

SOURCES: ORPHANET GARD SCTID UMLS MONDO OMIM MESH

Medium match MENTAL RETARDATION, X-LINKED 12; MRX12

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

MENTAL RETARDATION, X-LINKED 12; MRX12 Is also known as mental retardation, x-linked 35;mrx35;

• Intellectual disability
• Seizures
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET MONDO UMLS OMIM

Medium match CHROMOSOME 16p13.2 DELETION SYNDROME

CHROMOSOME 16p13.2 DELETION SYNDROME Is also known as ;del(16)(p13.2); monosomy 16p13.2

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

SOURCES: MONDO UMLS OMIM ORPHANET

Medium 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

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1

Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.EIEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1) to syndromic (OMIM ) and nonsyndromic (OMIM ) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). Genetic Heterogeneity of Early Infantile Epileptic EncephalopathyEIEE is a genetically heterogeneous disorder. See EIEE2 (OMIM ), caused by mutation in the CDKL5 gene (OMIM ); EIEE3 (OMIM ), caused by mutation in the SLC25A22 gene (OMIM ); EIEE4 (OMIM ), caused by mutation in the STXBP1 gene (OMIM ); EIEE5 (OMIM ), caused by mutation in the SPTAN1 gene (OMIM ); EIEE6 (OMIM ), also known as Dravet syndrome, caused by mutation in the SCN1A gene (OMIM ); EIEE7 (OMIM ), caused by mutation in the KCNQ2 gene (OMIM ); EIEE8 (OMIM ), caused by mutation in the ARHGEF9 gene (OMIM ); EIEE9 (OMIM ), caused by mutation in the PCDH19 gene (OMIM ); EIEE10 (OMIM ), caused by mutation in the PNKP gene (OMIM ); EIEE11 (OMIM ), caused by mutation in the SCN2A gene (OMIM ); EIEE12 (OMIM ), caused by mutation in the PLCB1 gene (OMIM ); EIEE13 (OMIM ), caused by mutation in the SCN8A gene (OMIM ); EIEE14 (OMIM ), caused by mutation in the KCNT1 gene (OMIM ); EIEE15 (OMIM ), caused by mutation in the ST3GAL3 gene (OMIM ); EIEE16 (OMIM ), caused by mutation in the TBC1D24 gene (OMIM ); EIEE17 (OMIM ), caused by mutation in the GNAO1 gene (OMIM ); EIEE18 (OMIM ), caused by mutation in the SZT2 gene (OMIM ); EIEE19 (OMIM ), caused by mutation in the GABRA1 gene (OMIM ); EIEE20 (OMIM ), caused by mutation in the PIGA gene (OMIM ); EIEE21 (OMIM ), caused by mutation in the NECAP1 gene (OMIM ); EIEE22 (OMIM ), caused by mutation in the SLC35A2 gene (OMIM ); EIEE23 (OMIM ), caused by mutation in the DOCK7 gene (OMIM ); EIEE24 (OMIM ), caused by mutation in the HCN1 gene (OMIM ); EIEE25 (OMIM ), caused by mutation in the SLC13A5 gene (OMIM ); EIEE26 (OMIM ), caused by mutation in the KCNB1 gene (OMIM ); EIEE27 (OMIM ), caused by mutation in the GRIN2B gene (OMIM ); EIEE28 (OMIM ), caused by mutation in the WWOX gene (OMIM ); EIEE29 (OMIM ), caused by mutation in the AARS gene (OMIM ); EIEE30 (OMIM ), caused by mutation in the SIK1 gene (OMIM ); EIEE31 (OMIM ), caused by mutation in the DNM1 gene (OMIM ); EIEE32 (OMIM ), caused by mutation in the KCNA2 gene (OMIM ); EIEE33 (OMIM ), caused by mutation in the EEF1A2 gene (OMIM ); EIEE34 (OMIM ), caused by mutation in the SLC12A5 gene (OMIM ); EIEE35 (OMIM ), caused by mutation in the ITPA gene (OMIM ); EIEE36 (OMIM ), caused by mutation in the ALG13 gene (OMIM ); EIEE37 (OMIM ), caused by mutation in the FRRS1L gene (OMIM ); EIEE38 (OMIM ), caused by mutation in the ARV1 gene (OMIM ); EIEE39 (OMIM ), caused by mutation in the SLC25A12 gene (OMIM ); EIEE40 (OMIM ), caused by mutation in the GUF1 gene (OMIM ); EIEE41 (OMIM ), caused by mutation in the SLC1A2 gene (OMIM ); EIEE42 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ); EIEE43 (OMIM ), caused by mutation in the GABRB3 gene (OMIM ); EIEE44 (OMIM ), caused by mutation in the UBA5 gene (OMIM ); EIEE45 (OMIM ), caused by mutation in the GABRB1 gene (OMIM ); EIEE46 (OMIM ), caused by mutation in the GRIN2D gene (OMIM ); EIEE47 (OMIM ), caused by mutation in the FGF12 gene (OMIM ); EIEE48 (OMIM ), caused by mutation in the AP3B2 gene (OMIM ); EIEE49 (OMIM ), caused by mutation in the DENND5A gene (OMIM ); EIEE50 (OMIM ) caused by mutation in the CAD gene (OMIM ); EIEE51 (OMIM ), caused by mutation in the MDH2 gene (OMIM ); EIEE52 (OMIM ), caused by mutation in the SCN1B gene (OMIM ); EIEE53 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ); EIEE54 (OMIM ), caused by mutation in the HNRNPU gene (OMIM ); EIEE55 (OMIM ), caused by mutation in the PIGP gene (OMIM ); EIEE56 (OMIM ), caused by mutation in the YWHAG gene (OMIM ); and EIEE57 (OMIM ), caused by mutation in the KCNT2 gene (OMIM ).The phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome (OMIM ); glycine encephalopathy (OMIM ); Aicardi-Goutieres syndrome (OMIM ); and in males with MECP2 mutations (OMIM ), among others.For associations pending confirmation, see MOLECULAR GENETICS.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 Is also known as infantile spasm syndrome, x-linked 1;issx1, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile epileptic-dyskinetic encephalopathy, xmesid

• Intellectual disability
• Seizures
• Global developmental delay
• Pica
• Microcephaly

SOURCES: UMLS OMIM MONDO

Medium match STANKIEWICZ-ISIDOR SYNDROME; STISS

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Hypertelorism

SOURCES: UMLS OMIM

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment

SOURCES: MONDO UMLS OMIM MESH

Medium match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: MESH OMIM MONDO ORPHANET UMLS

Medium match MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Is also known as mental retardation, x-linked 60, formerly;mrx60, formerly;ophn1 syndrome; oligophrenin-1 syndrome

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

SOURCES: ORPHANET SCTID GARD MESH OMIM UMLS MONDO