1 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 56 6 61 24035193 2013 2 Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality [malacards.org]

DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor GLUT1 Deficiency Syndrome Glycosylphosphatidylinositol Biosynthesis Defect 16 Goldberg-Shprintzen syndrome Goldblatt [rgd.mcw.edu]

Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). [ghr.nlm.nih.gov]

Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting Short Stature-Obesity Syndrome SHORT syndrome shoulder impingement [rgd.mcw.edu]

stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. 61 Stinson JL...Weaver DD 32426895 2020 25 De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. 61 Cai S...Jiang [malacards.org]

difficulties Delayed speech and language development And another 13 symptoms. [mendelian.co]

It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). [ghr.nlm.nih.gov]

People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. [ghr.nlm.nih.gov]

Hunter-Macdonald Syndrome Hunter-McAlpine Syndrome Huntington's Disease-Like Syndrome HUPRA Syndrome hydrolethalus syndrome Hydroxylysinuria hypereosinophilic syndrome hyperferritinemia-cataract syndrome Hyperimmunoglobulin G1(A1) Syndrome hyperinsulinism Hyperkeratosis-Hyperpigmentation [rgd.mcw.edu]

Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

impairment, elliptocytosis, and nephrocalcinosis Miles-Carpenter syndrome Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA depletion syndrome 8A mixed connective tissue disease [rgd.mcw.edu]

More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. [mendelian.co]

People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

impairment, autism and intellectual disability. 61 Chokron S...Dutton GN 32298709 2020 32 Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. 61 Ballout RA...El-Hattab AW 32112660 [malacards.org]

Impairment and Intellectual Disability cerebrocostomandibular syndrome Cerebrofaciothoracic Dysplasia Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome 4 Cerebrooculonasal Syndrome Cervical Rib Syndrome Chang Davidson Carlson Syndrome [rgd.mcw.edu]

Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

Retardation Syndrome, Belgian Type Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Mental Retardation with Spastic Paraplegia Mental Retardation Wolff Type MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS [rgd.mcw.edu]

Clinical Features Top most frequent phenotypes and symptoms related to Alacrima, Achalasia, And Mental Retardation Syndrome; Aamr Intellectual disability Global developmental delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular [mendelian.co]

Diplegia Infantile Type Spastic Paraplegia and Evans Syndrome Spastic Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation Spastic Paraplegia, Epilepsy, Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS [rgd.mcw.edu]

Mental Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Microcephaly, Corpus [rgd.mcw.edu]

28 PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. 61 Khan A...Eyaid W 32286682 2020 29 Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. 61 Haynes D...Lacassie Y 32324310 2020 30 Seizures [malacards.org]

speech and language development And another 13 symptoms. [mendelian.co]