Delayed speech and language development, and Hypopigmentation of the skin

Low match AL-RAQAD SYNDROME; ARS

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

SOURCES: UMLS OMIM MONDO

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 Is also known as cerebellar hypoplasia, nonprogressive norman type, cerebellar granular cell hypoplasia and mental retardation, congenital, cerebelloparenchymal disorder iii;cpd3, cpd iii;autosomal recessive spinocerebellar ataxia type 2; scar2

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

SOURCES: ORPHANET SCTID MONDO UMLS MESH DOID OMIM GARD

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN Is also known as mental retardation, x-linked, syndromic 30;mrxs30;x-linked intellectual disability-nail dystrophy-seizures syndrome

• Intellectual disability
• Seizures
• Depressed nasal bridge
• Macrocephaly
• Short neck

SOURCES: ORPHANET UMLS OMIM MONDO DOID

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

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

SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID

Low match ANGELMAN SYNDROME; AS

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

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

SOURCES: SCTID ICD10 ORPHANET OMIM UMLS

Low match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

• Short stature
• Hearing impairment
• Ataxia
• Failure to thrive
• Sensorineural hearing impairment

SOURCES: SCTID OMIM ORPHANET

Low match PITT-HOPKINS SYNDROME; PTHS

The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007).See also Pitt-Hopkins-like syndrome-1 (OMIM ), caused by mutation in the CNTNAP2 gene (OMIM ) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (OMIM ), caused by mutation in the NRXN1 gene (OMIM ) on chromosome 2p16.3.

PITT-HOPKINS SYNDROME; PTHS Is also known as encephalopathy, severe epileptic, with autonomic dysfunction, mental retardation, syndromal, with intermittent hyperventilation;

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

SOURCES: UMLS OMIM ORPHANET MONDO MESH NCIT DOID SCTID GARD

Low match ATRICHIA WITH PAPULAR LESIONS; APL

Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

ATRICHIA WITH PAPULAR LESIONS; APL Is also known as papular atrichia;papular atrichia

• Autosomal recessive inheritance
• Global developmental delay
• Pica
• Milia
• Alopecia

SOURCES: DOID MONDO OMIM SCTID UMLS MESH ORPHANET

Low match FOVEAL HYPOPLASIA 2; FVH2

Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (OMIM ), microphthalmia (see {251600}), albinism (see {203100}), or achromatopsia (see {216900}). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014).For a discussion of genetic heterogeneity of foveal hypoplasia, see FVH1 (OMIM ).

FOVEAL HYPOPLASIA 2; FVH2 Is also known as foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism;fhonda;fhonda syndrome

• Autosomal recessive inheritance
• Global developmental delay
• Pica
• Nystagmus
• Strabismus

SOURCES: MONDO ORPHANET OMIM UMLS MESH

Low match GALLOWAY-MOWAT SYNDROME 1; GAMOS1

Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat SyndromeGAMOS2 (OMIM ) is caused by mutation in the LAGE3 gene (OMIM ) on chromosome Xq28; GAMOS3 (OMIM ) is caused by mutation in the OSGEP gene (OMIM ) on chromosome 14q11; GAMOS4 (OMIM ) is caused by mutation in the TP53RK gene (OMIM ) on chromosome 20q13; and GAMOS5 (OMIM ) is caused by mutation in the TPRKB gene (OMIM ) on chromosome 2p13.

GALLOWAY-MOWAT SYNDROME 1; GAMOS1 Is also known as microcephaly, hiatal hernia, and nephrotic syndrome, galloway syndrome, nephrosis-neuronal dysmigration syndrome, nephrosis-microcephaly syndrome, cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;camos, spinocerebellar ataxia, autosomal recessive 5, formerly;scar5, formerly;galloway syndrome; microcephaly-hiatus hernia-nephrotic syndrome; nephrosis-neuronal dysmigration syndrome

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

SOURCES: OMIM ORPHANET UMLS SCTID MONDO