Developmental delays (gross motor, fine motor, speech)

Delayed psychomotor development; Other neurological anomalies


Hypertrophic cardiomyopathy (without symptoms)

Hypertrophic cardiomyopathy (with symptoms)


SYNGAP1-related developmental and epileptic encephalopathy


Hypotonia; Cortical atrophy; Bilateral ptosis; Atrophic right testicle; Keratosis pillaris; Hyperkeratosis; Dysmorphic coarse facial features; Sparse scalp hair and no eyelashes, eyebrows, or body hair; Bitemporal constriction; Prominent philtrum; Micrognathia; Posteriorly rotated ears; Hyperhidrosis; Heat intolerance of more severe skin lesions; Histopathologic findings including eccrine squamous metaplasia; Histopathologic findings including periadnexal granuloma

Inflammatory dermatitis; Diffuse erythematous lesions covered by thick scales; Yellowish palmoplantar keratoderma; Coarse and unruly hair; Thick hyperkeratotic scalp plaques; Severe Itching; Skin Pustules/blisters; Staphylococcus superinfections; Sleep disturbance; Dysmorphic facies; Macroglossia; Very thin eyebrows and scarce hair


1- and 5-minute Apgar scores were 4 and 6, respectively; Curly hair, sparse eyebrows, prominent forehead, and a small chin; Generalized hypotonia; Generalized hyperpassivity; Generalized hyperextensivity; Eczema

craniofacial and cutaneous features characteristic of CFCS, including bitemporal narrowing, a short broad nose, and sparse and curly hair; idiopathic central precocious puberty; hypernatremia on 2 occasions despite good ability to produce concentrated urine; asymptomatic hyperprolactinemia


Chylothorax (not as a result of a post-operative complication)


Pulmonary hypertension; Congestive heart failure; Pulmonary artery aneurysm; Posthemorrhagic hydrocephalus; Pulmonary artery dilation; Pulmonary capillary hemangiomatosis; Mild mitral regurgitation; Aortic valve with thickened cusps; Pulmonary artery dilation;

Ectopic and Multifocal Atrial Tachycardias; Congestive Heart Failure; Biventricular Hypertrophy; Atrial Ectopy


Sparse scalp hair and no eyelashes, eyebrows, or body hair


Histopathologic findings including periadnexal granuloma


Heat intolerance of more severe skin lesions


hypernatremia on 2 occasions despite good ability to produce concentrated urine


Hypsarrythmia on interictal EEG; Decrease in left ventricular stroke volume


Left ventricular ejection fraction decreased (finding)

Decrease in left ventricular stroke volume


1- and 5-minute Apgar scores were 4 and 6, respectively


Diffuse erythematous lesions covered by thick scales


Histopathologic findings including eccrine squamous metaplasia


presumed lymphatic dysfunction, respiratory failure


Atrial tachycardia; Acute heart failure; Hypotension


adult acute respiratory distress syndrome

Acute respiratory distress; Bilateral parenchymal lung consolidation; Pleural effusion


Macrocephaly; Widely Spaced Nipples; Severe Left Main-Stem Bronchomalacia


Hypotonia; Cyanosis; Hyporeflexia; Low Apgar score; Grade II cerebral ventricular hemorrhage; Profound hypoxic crises; Moderate hypercarbia


Ectopic and Multifocal Atrial Tachycardias


Grade II cerebral ventricular hemorrhage


Bilateral parenchymal lung consolidation


Right ventricular outlet tract obstruction

Right Ventricular Outflow Tract Obstruction (RVOTO)


Noonan syndrome with multiple lentigines


Developmental delays (gross motor, fine motor, speech)


Hypertrophic cardiomyopathy (with symptoms)